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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genome-wide association study identifies three new melanoma susceptibility loci</title><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Taylor, John C" sort="Taylor, John C" uniqKey="Taylor J" first="John C" last="Taylor">John C. Taylor</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Aitken, Joanne F" sort="Aitken, Joanne F" uniqKey="Aitken J" first="Joanne F" last="Aitken">Joanne F. Aitken</name><affiliation><nlm:aff id="A2">Viertel Centre for Research in Cancer Control, The Cancer Council, Queensland, Spring Hill, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Andresen, Per Arne" sort="Andresen, Per Arne" uniqKey="Andresen P" first="Per Arne" last="Andresen">Per Arne Andresen</name><affiliation><nlm:aff id="A3">Pathology Clinic, Oslo University Hospital, Rikshospitalet, N-0027 Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Akslen, Lars A" sort="Akslen, Lars A" uniqKey="Akslen L" first="Lars A" last="Akslen">Lars A. Akslen</name><affiliation><nlm:aff id="A4">The Gade Institute, University of Bergen, N-5020 Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Dept. of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K" last="Armstrong">Bruce K. Armstrong</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Francoise" last="Avril">Marie-Francoise Avril</name><affiliation><nlm:aff id="A7">AP-HP, Hôpital Cochin, Service de Dermatologie, Faculté Paris 5, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name><affiliation><nlm:aff id="A8">Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel</nlm:aff></affiliation></author><author><name sortKey="Bakker, Bert" sort="Bakker, Bert" uniqKey="Bakker B" first="Bert" last="Bakker">Bert Bakker</name><affiliation><nlm:aff id="A9">Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi-Scarrà">Giovanna Bianchi-Scarrà</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Paillerets, Brigitte Bressac De" sort="Paillerets, Brigitte Bressac De" uniqKey="Paillerets B" first="Brigitte Bressac-De" last="Paillerets">Brigitte Bressac-De Paillerets</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Département de<underline>Biopathologie, Service de Génétique</underline>, Institut de Cancérologie Gustave Roussy, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name><affiliation><nlm:aff id="A14">Dermatology Unit, Maurizio Bufalini Hospital, 47023 Cesena, Italy</nlm:aff></affiliation></author><author><name sortKey="Cannon Albright, Lisa A" sort="Cannon Albright, Lisa A" uniqKey="Cannon Albright L" first="Lisa A" last="Cannon-Albright">Lisa A. Cannon-Albright</name><affiliation><nlm:aff id="A15">Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Corda, Eve" sort="Corda, Eve" uniqKey="Corda E" first="Eve" last="Corda">Eve Corda</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E" last="Cust">Anne E. Cust</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Cancer Epidemiology and Services Research, Sydney School of Public Health, The University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="D Bniak, Tadeusz" sort="D Bniak, Tadeusz" uniqKey="D Bniak T" first="Tadeusz" last="D Bniak">Tadeusz D Bniak</name><affiliation><nlm:aff id="A19">International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Duffy, David" sort="Duffy, David" uniqKey="Duffy D" first="David" last="Duffy">David Duffy</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison" sort="Dunning, Alison" uniqKey="Dunning A" first="Alison" last="Dunning">Alison Dunning</name><affiliation><nlm:aff id="A21">University of Cambridge, Cambridge, England, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="A21">University of Cambridge, Cambridge, England, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="A8">Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel</nlm:aff></affiliation></author><author><name sortKey="Galan, Pilar" sort="Galan, Pilar" uniqKey="Galan P" first="Pilar" last="Galan">Pilar Galan</name><affiliation><nlm:aff id="A22">UMR U557 Inserm; U1125 Inra; Cnam; Paris 13, CRNH Idf, 74 rue Marcel Cachin F-93017 Bobigny</nlm:aff></affiliation></author><author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G" last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hocevar, Marko" sort="Hocevar, Marko" uniqKey="Hocevar M" first="Marko" last="Hocevar">Marko Hocevar</name><affiliation><nlm:aff id="A24">Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Janssen, Bart" sort="Janssen, Bart" uniqKey="Janssen B" first="Bart" last="Janssen">Bart Janssen</name><affiliation><nlm:aff id="A26">ServiceXS, Plesmanlaan 1d, 2333 BZ Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Mark A" sort="Jenkins, Mark A" uniqKey="Jenkins M" first="Mark A" last="Jenkins">Mark A. Jenkins</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Jonsson, Goran" sort="Jonsson, Goran" uniqKey="Jonsson G" first="Göran" last="Jönsson">Göran Jönsson</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F" last="Kefford">Richard F. Kefford</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Landi, Giorgio" sort="Landi, Giorgio" uniqKey="Landi G" first="Giorgio" last="Landi">Giorgio Landi</name><affiliation><nlm:aff id="A14">Dermatology Unit, Maurizio Bufalini Hospital, 47023 Cesena, Italy</nlm:aff></affiliation></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name><affiliation><nlm:aff id="A27">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute. NIH, Bethesda, MD 20892-7236, USA</nlm:aff></affiliation></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, University of Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name><affiliation><nlm:aff id="A19">International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Mackie, Rona" sort="Mackie, Rona" uniqKey="Mackie R" first="Rona" last="Mackie">Rona Mackie</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, University of Glasgow, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Public Health and Health Policy, University of Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Malvehy, Josep" sort="Malvehy, Josep" uniqKey="Malvehy J" first="Josep" last="Malvehy">Josep Malvehy</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G" last="Martin">Nicholas G. Martin</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name><affiliation><nlm:aff id="A4">The Gade Institute, University of Bergen, N-5020 Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Dept. of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W" last="Montgomery">Grant W. Montgomery</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Nieuwpoort, Frans A" sort="Van Nieuwpoort, Frans A" uniqKey="Van Nieuwpoort F" first="Frans A" last="Van Nieuwpoort">Frans A. Van Nieuwpoort</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Novakovic, Srdjan" sort="Novakovic, Srdjan" uniqKey="Novakovic S" first="Srdjan" last="Novakovic">Srdjan Novakovic</name><affiliation><nlm:aff id="A24">Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Olsson, H Kan" sort="Olsson, H Kan" uniqKey="Olsson H" first="H Kan" last="Olsson">H Kan Olsson</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Pastorino, Lorenza" sort="Pastorino, Lorenza" uniqKey="Pastorino L" first="Lorenza" last="Pastorino">Lorenza Pastorino</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Randerson Moor, Juliette" sort="Randerson Moor, Juliette" uniqKey="Randerson Moor J" first="Juliette" last="Randerson-Moor">Juliette Randerson-Moor</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Snowden, Helen" sort="Snowden, Helen" uniqKey="Snowden H" first="Helen" last="Snowden">Helen Snowden</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Tuominen, Rainer" sort="Tuominen, Rainer" uniqKey="Tuominen R" first="Rainer" last="Tuominen">Rainer Tuominen</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Van Belle, Patricia" sort="Van Belle, Patricia" uniqKey="Van Belle P" first="Patricia" last="Van Belle">Patricia Van Belle</name><affiliation><nlm:aff id="A31">Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Van Der Stoep, Nienke" sort="Van Der Stoep, Nienke" uniqKey="Van Der Stoep N" first="Nienke" last="Van Der Stoep">Nienke Van Der Stoep</name><affiliation><nlm:aff id="A9">Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Whiteman, David C" sort="Whiteman, David C" uniqKey="Whiteman D" first="David C" last="Whiteman">David C. Whiteman</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation><nlm:aff id="A32">Commissariat à l'énergie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France</nlm:aff></affiliation></author><author><name sortKey="Han, Jiali" sort="Han, Jiali" uniqKey="Han J" first="Jiali" last="Han">Jiali Han</name><affiliation><nlm:aff id="A33">Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A35">Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Fang, Shenying" sort="Fang, Shenying" uniqKey="Fang S" first="Shenying" last="Fang">Shenying Fang</name><affiliation><nlm:aff id="A36">Department of Epidemiology, The University of Texas, MD Anderson Cancer Center, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Lee, Jeffrey E" sort="Lee, Jeffrey E" uniqKey="Lee J" first="Jeffrey E" last="Lee">Jeffrey E. Lee</name><affiliation><nlm:aff id="A37">Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Wei, Qingyi" sort="Wei, Qingyi" uniqKey="Wei Q" first="Qingyi" last="Wei">Qingyi Wei</name><affiliation><nlm:aff id="A38">Department of Epidemiology Unit 1365, UT MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name><affiliation><nlm:aff id="A32">Commissariat à l'énergie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M" last="Gillanders">Elizabeth M. Gillanders</name><affiliation><nlm:aff id="A39">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA</nlm:aff></affiliation></author><author><name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M" last="Brown">Kevin M. Brown</name><affiliation><nlm:aff id="A40">Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M" last="Goldstein">Alisa M. Goldstein</name><affiliation><nlm:aff id="A27">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute. NIH, Bethesda, MD 20892-7236, USA</nlm:aff></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name><affiliation><nlm:aff id="A41">Centre for Clinical Epidemiology & Biostatistics and Department of Biostatistics & Epidemiology, 219 Blockley Hall, University of Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</name><affiliation><nlm:aff id="A31">Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I" last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A42">Section of Computational and Genetic Epidemiology, Epidemiology, UT M.D. Anderson Cancer Center, 1155 Pressler St., Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Université Paris Diderot Paris 7, Institut Universitaire d'Hématologied'Hémtologie, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton Bishop">Julia A. Newton Bishop</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21983787</idno><idno type="pmc">3251256</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3251256</idno><idno type="RBID">PMC:3251256</idno><idno type="doi">10.1038/ng.959</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">002E09</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">002E09</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genome-wide association study identifies three new melanoma susceptibility loci</title><author><name sortKey="Barrett, Jennifer H" sort="Barrett, Jennifer H" uniqKey="Barrett J" first="Jennifer H" last="Barrett">Jennifer H. Barrett</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Iles, Mark M" sort="Iles, Mark M" uniqKey="Iles M" first="Mark M" last="Iles">Mark M. Iles</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Harland, Mark" sort="Harland, Mark" uniqKey="Harland M" first="Mark" last="Harland">Mark Harland</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Taylor, John C" sort="Taylor, John C" uniqKey="Taylor J" first="John C" last="Taylor">John C. Taylor</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Aitken, Joanne F" sort="Aitken, Joanne F" uniqKey="Aitken J" first="Joanne F" last="Aitken">Joanne F. Aitken</name><affiliation><nlm:aff id="A2">Viertel Centre for Research in Cancer Control, The Cancer Council, Queensland, Spring Hill, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Andresen, Per Arne" sort="Andresen, Per Arne" uniqKey="Andresen P" first="Per Arne" last="Andresen">Per Arne Andresen</name><affiliation><nlm:aff id="A3">Pathology Clinic, Oslo University Hospital, Rikshospitalet, N-0027 Oslo, Norway</nlm:aff></affiliation></author><author><name sortKey="Akslen, Lars A" sort="Akslen, Lars A" uniqKey="Akslen L" first="Lars A" last="Akslen">Lars A. Akslen</name><affiliation><nlm:aff id="A4">The Gade Institute, University of Bergen, N-5020 Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Dept. of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Armstrong, Bruce K" sort="Armstrong, Bruce K" uniqKey="Armstrong B" first="Bruce K" last="Armstrong">Bruce K. Armstrong</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Avril, Marie Francoise" sort="Avril, Marie Francoise" uniqKey="Avril M" first="Marie-Francoise" last="Avril">Marie-Francoise Avril</name><affiliation><nlm:aff id="A7">AP-HP, Hôpital Cochin, Service de Dermatologie, Faculté Paris 5, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Azizi, Esther" sort="Azizi, Esther" uniqKey="Azizi E" first="Esther" last="Azizi">Esther Azizi</name><affiliation><nlm:aff id="A8">Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel</nlm:aff></affiliation></author><author><name sortKey="Bakker, Bert" sort="Bakker, Bert" uniqKey="Bakker B" first="Bert" last="Bakker">Bert Bakker</name><affiliation><nlm:aff id="A9">Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bergman, Wilma" sort="Bergman, Wilma" uniqKey="Bergman W" first="Wilma" last="Bergman">Wilma Bergman</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Bianchi Scarra, Giovanna" sort="Bianchi Scarra, Giovanna" uniqKey="Bianchi Scarra G" first="Giovanna" last="Bianchi-Scarrà">Giovanna Bianchi-Scarrà</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Paillerets, Brigitte Bressac De" sort="Paillerets, Brigitte Bressac De" uniqKey="Paillerets B" first="Brigitte Bressac-De" last="Paillerets">Brigitte Bressac-De Paillerets</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Département de<underline>Biopathologie, Service de Génétique</underline>, Institut de Cancérologie Gustave Roussy, Villejuif, France</nlm:aff></affiliation></author><author><name sortKey="Calista, Donato" sort="Calista, Donato" uniqKey="Calista D" first="Donato" last="Calista">Donato Calista</name><affiliation><nlm:aff id="A14">Dermatology Unit, Maurizio Bufalini Hospital, 47023 Cesena, Italy</nlm:aff></affiliation></author><author><name sortKey="Cannon Albright, Lisa A" sort="Cannon Albright, Lisa A" uniqKey="Cannon Albright L" first="Lisa A" last="Cannon-Albright">Lisa A. Cannon-Albright</name><affiliation><nlm:aff id="A15">Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA</nlm:aff></affiliation></author><author><name sortKey="Corda, Eve" sort="Corda, Eve" uniqKey="Corda E" first="Eve" last="Corda">Eve Corda</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cust, Anne E" sort="Cust, Anne E" uniqKey="Cust A" first="Anne E" last="Cust">Anne E. Cust</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A18">Cancer Epidemiology and Services Research, Sydney School of Public Health, The University of Sydney, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="D Bniak, Tadeusz" sort="D Bniak, Tadeusz" uniqKey="D Bniak T" first="Tadeusz" last="D Bniak">Tadeusz D Bniak</name><affiliation><nlm:aff id="A19">International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Duffy, David" sort="Duffy, David" uniqKey="Duffy D" first="David" last="Duffy">David Duffy</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Dunning, Alison" sort="Dunning, Alison" uniqKey="Dunning A" first="Alison" last="Dunning">Alison Dunning</name><affiliation><nlm:aff id="A21">University of Cambridge, Cambridge, England, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Easton, Douglas F" sort="Easton, Douglas F" uniqKey="Easton D" first="Douglas F" last="Easton">Douglas F. Easton</name><affiliation><nlm:aff id="A21">University of Cambridge, Cambridge, England, United Kingdom</nlm:aff></affiliation></author><author><name sortKey="Friedman, Eitan" sort="Friedman, Eitan" uniqKey="Friedman E" first="Eitan" last="Friedman">Eitan Friedman</name><affiliation><nlm:aff id="A8">Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel</nlm:aff></affiliation></author><author><name sortKey="Galan, Pilar" sort="Galan, Pilar" uniqKey="Galan P" first="Pilar" last="Galan">Pilar Galan</name><affiliation><nlm:aff id="A22">UMR U557 Inserm; U1125 Inra; Cnam; Paris 13, CRNH Idf, 74 rue Marcel Cachin F-93017 Bobigny</nlm:aff></affiliation></author><author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Giles, Graham G" sort="Giles, Graham G" uniqKey="Giles G" first="Graham G" last="Giles">Graham G. Giles</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hocevar, Marko" sort="Hocevar, Marko" uniqKey="Hocevar M" first="Marko" last="Hocevar">Marko Hocevar</name><affiliation><nlm:aff id="A24">Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Hoiom, Veronica" sort="Hoiom, Veronica" uniqKey="Hoiom V" first="Veronica" last="Höiom">Veronica Höiom</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Hopper, John L" sort="Hopper, John L" uniqKey="Hopper J" first="John L" last="Hopper">John L. Hopper</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Ingvar, Christian" sort="Ingvar, Christian" uniqKey="Ingvar C" first="Christian" last="Ingvar">Christian Ingvar</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Janssen, Bart" sort="Janssen, Bart" uniqKey="Janssen B" first="Bart" last="Janssen">Bart Janssen</name><affiliation><nlm:aff id="A26">ServiceXS, Plesmanlaan 1d, 2333 BZ Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Jenkins, Mark A" sort="Jenkins, Mark A" uniqKey="Jenkins M" first="Mark A" last="Jenkins">Mark A. Jenkins</name><affiliation><nlm:aff id="A17">Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</nlm:aff></affiliation></author><author><name sortKey="Jonsson, Goran" sort="Jonsson, Goran" uniqKey="Jonsson G" first="Göran" last="Jönsson">Göran Jönsson</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Kefford, Richard F" sort="Kefford, Richard F" uniqKey="Kefford R" first="Richard F" last="Kefford">Richard F. Kefford</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Landi, Giorgio" sort="Landi, Giorgio" uniqKey="Landi G" first="Giorgio" last="Landi">Giorgio Landi</name><affiliation><nlm:aff id="A14">Dermatology Unit, Maurizio Bufalini Hospital, 47023 Cesena, Italy</nlm:aff></affiliation></author><author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name><affiliation><nlm:aff id="A27">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute. NIH, Bethesda, MD 20892-7236, USA</nlm:aff></affiliation></author><author><name sortKey="Lang, Julie" sort="Lang, Julie" uniqKey="Lang J" first="Julie" last="Lang">Julie Lang</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, University of Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Lubi Ski, Jan" sort="Lubi Ski, Jan" uniqKey="Lubi Ski J" first="Jan" last="Lubi Ski">Jan Lubi Ski</name><affiliation><nlm:aff id="A19">International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland</nlm:aff></affiliation></author><author><name sortKey="Mackie, Rona" sort="Mackie, Rona" uniqKey="Mackie R" first="Rona" last="Mackie">Rona Mackie</name><affiliation><nlm:aff id="A28">Department of Medical Genetics, University of Glasgow, UK</nlm:aff></affiliation><affiliation><nlm:aff id="A29">Public Health and Health Policy, University of Glasgow, UK</nlm:aff></affiliation></author><author><name sortKey="Malvehy, Josep" sort="Malvehy, Josep" uniqKey="Malvehy J" first="Josep" last="Malvehy">Josep Malvehy</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G" last="Martin">Nicholas G. Martin</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Molven, Anders" sort="Molven, Anders" uniqKey="Molven A" first="Anders" last="Molven">Anders Molven</name><affiliation><nlm:aff id="A4">The Gade Institute, University of Bergen, N-5020 Bergen, Norway</nlm:aff></affiliation><affiliation><nlm:aff id="A5">Dept. of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W" last="Montgomery">Grant W. Montgomery</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Van Nieuwpoort, Frans A" sort="Van Nieuwpoort, Frans A" uniqKey="Van Nieuwpoort F" first="Frans A" last="Van Nieuwpoort">Frans A. Van Nieuwpoort</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Novakovic, Srdjan" sort="Novakovic, Srdjan" uniqKey="Novakovic S" first="Srdjan" last="Novakovic">Srdjan Novakovic</name><affiliation><nlm:aff id="A24">Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia</nlm:aff></affiliation></author><author><name sortKey="Olsson, H Kan" sort="Olsson, H Kan" uniqKey="Olsson H" first="H Kan" last="Olsson">H Kan Olsson</name><affiliation><nlm:aff id="A25">Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</nlm:aff></affiliation></author><author><name sortKey="Pastorino, Lorenza" sort="Pastorino, Lorenza" uniqKey="Pastorino L" first="Lorenza" last="Pastorino">Lorenza Pastorino</name><affiliation><nlm:aff id="A11">Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</nlm:aff></affiliation></author><author><name sortKey="Puig, Susana" sort="Puig, Susana" uniqKey="Puig S" first="Susana" last="Puig">Susana Puig</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Puig Butille, Joan Anton" sort="Puig Butille, Joan Anton" uniqKey="Puig Butille J" first="Joan Anton" last="Puig-Butille">Joan Anton Puig-Butille</name><affiliation><nlm:aff id="A30">Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</nlm:aff></affiliation></author><author><name sortKey="Randerson Moor, Juliette" sort="Randerson Moor, Juliette" uniqKey="Randerson Moor J" first="Juliette" last="Randerson-Moor">Juliette Randerson-Moor</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Snowden, Helen" sort="Snowden, Helen" uniqKey="Snowden H" first="Helen" last="Snowden">Helen Snowden</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Tuominen, Rainer" sort="Tuominen, Rainer" uniqKey="Tuominen R" first="Rainer" last="Tuominen">Rainer Tuominen</name><affiliation><nlm:aff id="A23">Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Van Belle, Patricia" sort="Van Belle, Patricia" uniqKey="Van Belle P" first="Patricia" last="Van Belle">Patricia Van Belle</name><affiliation><nlm:aff id="A31">Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Van Der Stoep, Nienke" sort="Van Der Stoep, Nienke" uniqKey="Van Der Stoep N" first="Nienke" last="Van Der Stoep">Nienke Van Der Stoep</name><affiliation><nlm:aff id="A9">Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Whiteman, David C" sort="Whiteman, David C" uniqKey="Whiteman D" first="David C" last="Whiteman">David C. Whiteman</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Zelenika, Diana" sort="Zelenika, Diana" uniqKey="Zelenika D" first="Diana" last="Zelenika">Diana Zelenika</name><affiliation><nlm:aff id="A32">Commissariat à l'énergie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France</nlm:aff></affiliation></author><author><name sortKey="Han, Jiali" sort="Han, Jiali" uniqKey="Han J" first="Jiali" last="Han">Jiali Han</name><affiliation><nlm:aff id="A33">Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A34">Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</nlm:aff></affiliation><affiliation><nlm:aff id="A35">Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA</nlm:aff></affiliation></author><author><name sortKey="Fang, Shenying" sort="Fang, Shenying" uniqKey="Fang S" first="Shenying" last="Fang">Shenying Fang</name><affiliation><nlm:aff id="A36">Department of Epidemiology, The University of Texas, MD Anderson Cancer Center, Houston, Texas</nlm:aff></affiliation></author><author><name sortKey="Lee, Jeffrey E" sort="Lee, Jeffrey E" uniqKey="Lee J" first="Jeffrey E" last="Lee">Jeffrey E. Lee</name><affiliation><nlm:aff id="A37">Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA</nlm:aff></affiliation></author><author><name sortKey="Wei, Qingyi" sort="Wei, Qingyi" uniqKey="Wei Q" first="Qingyi" last="Wei">Qingyi Wei</name><affiliation><nlm:aff id="A38">Department of Epidemiology Unit 1365, UT MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Lathrop, G Mark" sort="Lathrop, G Mark" uniqKey="Lathrop G" first="G Mark" last="Lathrop">G Mark Lathrop</name><affiliation><nlm:aff id="A32">Commissariat à l'énergie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Gillanders, Elizabeth M" sort="Gillanders, Elizabeth M" uniqKey="Gillanders E" first="Elizabeth M" last="Gillanders">Elizabeth M. Gillanders</name><affiliation><nlm:aff id="A39">Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA</nlm:aff></affiliation></author><author><name sortKey="Brown, Kevin M" sort="Brown, Kevin M" uniqKey="Brown K" first="Kevin M" last="Brown">Kevin M. Brown</name><affiliation><nlm:aff id="A40">Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20892, USA</nlm:aff></affiliation></author><author><name sortKey="Goldstein, Alisa M" sort="Goldstein, Alisa M" uniqKey="Goldstein A" first="Alisa M" last="Goldstein">Alisa M. Goldstein</name><affiliation><nlm:aff id="A27">Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute. NIH, Bethesda, MD 20892-7236, USA</nlm:aff></affiliation></author><author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name><affiliation><nlm:aff id="A41">Centre for Clinical Epidemiology & Biostatistics and Department of Biostatistics & Epidemiology, 219 Blockley Hall, University of Pennsylvania, USA</nlm:aff></affiliation></author><author><name sortKey="Mann, Graham J" sort="Mann, Graham J" uniqKey="Mann G" first="Graham J" last="Mann">Graham J. Mann</name><affiliation><nlm:aff id="A6">Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Macgregor, Stuart" sort="Macgregor, Stuart" uniqKey="Macgregor S" first="Stuart" last="Macgregor">Stuart Macgregor</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Elder, David E" sort="Elder, David E" uniqKey="Elder D" first="David E" last="Elder">David E. Elder</name><affiliation><nlm:aff id="A31">Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Amos, Christopher I" sort="Amos, Christopher I" uniqKey="Amos C" first="Christopher I" last="Amos">Christopher I. Amos</name><affiliation><nlm:aff id="A42">Section of Computational and Genetic Epidemiology, Epidemiology, UT M.D. Anderson Cancer Center, 1155 Pressler St., Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K" last="Hayward">Nicholas K. Hayward</name><affiliation><nlm:aff id="A20">Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name><affiliation><nlm:aff id="A10">Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Demenais, Florence" sort="Demenais, Florence" uniqKey="Demenais F" first="Florence" last="Demenais">Florence Demenais</name><affiliation><nlm:aff id="A12">INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Fondation Jean Dausset-CEPH, 75010, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A43">Université Paris Diderot Paris 7, Institut Universitaire d'Hématologied'Hémtologie, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Newton Bishop, Julia A" sort="Newton Bishop, Julia A" uniqKey="Newton Bishop J" first="Julia A" last="Newton Bishop">Julia A. Newton Bishop</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author><author><name sortKey="Bishop, D Timothy" sort="Bishop, D Timothy" uniqKey="Bishop D" first="D Timothy" last="Bishop">D Timothy Bishop</name><affiliation><nlm:aff id="A1">Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</nlm:aff></affiliation></author></analytic><series><title level="j">Nature genetics</title><idno type="ISSN">1061-4036</idno><idno type="eISSN">1546-1718</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">We report a genome-wide association study of melanoma, conducted by GenoMEL, of 2,981 cases, of European ancestry, and 1,982 study-specific controls, plus a further 6,426 French and UK population controls, all genotyped for 317,000 or 610,000 SNPs. The analysis confirmed previously known melanoma susceptibility loci. The 7 novel regions with at least one SNP with p<10<sup>−5</sup> and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Houston, Texas). Additional replication came from UK and Dutch case-control series. Three of the 7 regions replicated at p<10<sup>−3</sup>: an <italic>ATM</italic> missense polymorphism (rs1801516, overall p=3.4×10<sup>−9</sup>); a polymorphism within <italic>MX2</italic> (rs45430, p=2.9×10<sup>−9</sup>) and a SNP adjacent to <italic>CASP8</italic> (rs13016963, p=8.6×10<sup>−10</sup>). A fourth region near <italic>CCND1</italic> remains of potential interest, showing suggestive but inconclusive evidence of replication. Unlike the previously known regions, the novel loci showed no association with nevus or pigmentation phenotypes in a large UK case-control series.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Cannon Albright, La" uniqKey="Cannon Albright L">LA Cannon-Albright</name></author><author><name sortKey="Bishop, Dt" uniqKey="Bishop D">DT Bishop</name></author><author><name sortKey="Goldgar, C" uniqKey="Goldgar C">C Goldgar</name></author><author><name sortKey="Skolnick, Mh" uniqKey="Skolnick M">MH Skolnick</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Naldi, L" uniqKey="Naldi L">L Naldi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Titus Ernstoff, L" uniqKey="Titus Ernstoff L">L Titus-Ernstoff</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Holly, Ea" uniqKey="Holly E">EA Holly</name></author><author><name sortKey="Aston, Da" uniqKey="Aston D">DA Aston</name></author><author><name sortKey="Cress, Rd" uniqKey="Cress R">RD Cress</name></author><author><name sortKey="Ahn, Dk" uniqKey="Ahn D">DK Ahn</name></author><author><name sortKey="Kristiansen, Jj" uniqKey="Kristiansen J">JJ Kristiansen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Holly, Ea" uniqKey="Holly E">EA Holly</name></author><author><name sortKey="Aston, Da" uniqKey="Aston D">DA Aston</name></author><author><name sortKey="Cress, Rd" uniqKey="Cress R">RD Cress</name></author><author><name sortKey="Ahn, Dk" uniqKey="Ahn D">DK Ahn</name></author><author><name sortKey="Kristiansen, Jj" uniqKey="Kristiansen J">JJ Kristiansen</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bataille, V" uniqKey="Bataille V">V Bataille</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Chang, Ym" uniqKey="Chang Y">YM Chang</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Bishop, Dt" uniqKey="Bishop D">DT Bishop</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Raimondi, S" uniqKey="Raimondi S">S Raimondi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Kanetsky, Pa" uniqKey="Kanetsky P">PA Kanetsky</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Gudbjartsson, Df" uniqKey="Gudbjartsson D">DF Gudbjartsson</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Falchi, M" uniqKey="Falchi M">M Falchi</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Brown, Km" uniqKey="Brown K">KM Brown</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Duffy, Dl" uniqKey="Duffy D">DL Duffy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Duffy, Dl" uniqKey="Duffy D">DL Duffy</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Guedj, M" uniqKey="Guedj M">M Guedj</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Nan, H" uniqKey="Nan H">H Nan</name></author><author><name sortKey="Kraft, P" uniqKey="Kraft P">P Kraft</name></author><author><name sortKey="Hunter, Dj" uniqKey="Hunter D">DJ Hunter</name></author><author><name sortKey="Han, J" uniqKey="Han J">J Han</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Rafnar, T" uniqKey="Rafnar T">T Rafnar</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Pruim, Rj" uniqKey="Pruim R">RJ Pruim</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Han, J" uniqKey="Han J">J Han</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Fernandez, Lp" uniqKey="Fernandez L">LP Fernandez</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Baird, Dm" uniqKey="Baird D">DM Baird</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Yin, M" uniqKey="Yin M">M Yin</name></author><author><name sortKey="Yan, J" uniqKey="Yan J">J Yan</name></author><author><name sortKey="Wei, S" uniqKey="Wei S">S Wei</name></author><author><name sortKey="Wei, Q" uniqKey="Wei Q">Q Wei</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Lavin, Mf" uniqKey="Lavin M">MF Lavin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Garner, C" uniqKey="Garner C">C Garner</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Curtin, Ja" uniqKey="Curtin J">JA Curtin</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Newton Bishop, Ja" uniqKey="Newton Bishop J">JA Newton-Bishop</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">9216904</journal-id><journal-id journal-id-type="pubmed-jr-id">2419</journal-id><journal-id journal-id-type="nlm-ta">Nat Genet</journal-id><journal-id journal-id-type="iso-abbrev">Nat. Genet.</journal-id><journal-title-group><journal-title>Nature genetics</journal-title></journal-title-group><issn pub-type="ppub">1061-4036</issn><issn pub-type="epub">1546-1718</issn></journal-meta><article-meta><article-id pub-id-type="pmid">21983787</article-id><article-id pub-id-type="pmc">3251256</article-id><article-id pub-id-type="doi">10.1038/ng.959</article-id><article-id pub-id-type="manuscript">NIHMS335189</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Genome-wide association study identifies three new melanoma susceptibility loci</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Barrett</surname><given-names>Jennifer H</given-names></name><xref rid="FN2" ref-type="author-notes">*</xref><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Iles</surname><given-names>Mark M</given-names></name><xref rid="FN2" ref-type="author-notes">*</xref><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Harland</surname><given-names>Mark</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Taylor</surname><given-names>John C</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Aitken</surname><given-names>Joanne F</given-names></name><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Andresen</surname><given-names>Per Arne</given-names></name><xref ref-type="aff" rid="A3">3</xref></contrib><contrib contrib-type="author"><name><surname>Akslen</surname><given-names>Lars A</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Armstrong</surname><given-names>Bruce K</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Avril</surname><given-names>Marie-Francoise</given-names></name><xref ref-type="aff" rid="A7">7</xref></contrib><contrib contrib-type="author"><name><surname>Azizi</surname><given-names>Esther</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Bakker</surname><given-names>Bert</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Bergman</surname><given-names>Wilma</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Bianchi-Scarrà</surname><given-names>Giovanna</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Paillerets</surname><given-names>Brigitte Bressac-de</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A13">13</xref></contrib><contrib contrib-type="author"><name><surname>Calista</surname><given-names>Donato</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Cannon-Albright</surname><given-names>Lisa A</given-names></name><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Corda</surname><given-names>Eve</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Cust</surname><given-names>Anne E</given-names></name><xref ref-type="aff" rid="A17">17</xref><xref ref-type="aff" rid="A18">18</xref></contrib><contrib contrib-type="author"><name><surname>Dębniak</surname><given-names>Tadeusz</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Duffy</surname><given-names>David</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Dunning</surname><given-names>Alison</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Easton</surname><given-names>Douglas F</given-names></name><xref ref-type="aff" rid="A21">21</xref></contrib><contrib contrib-type="author"><name><surname>Friedman</surname><given-names>Eitan</given-names></name><xref ref-type="aff" rid="A8">8</xref></contrib><contrib contrib-type="author"><name><surname>Galan</surname><given-names>Pilar</given-names></name><xref ref-type="aff" rid="A22">22</xref></contrib><contrib contrib-type="author"><name><surname>Ghiorzo</surname><given-names>Paola</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Giles</surname><given-names>Graham G</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Hansson</surname><given-names>Johan</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Hocevar</surname><given-names>Marko</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Höiom</surname><given-names>Veronica</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Hopper</surname><given-names>John L</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Ingvar</surname><given-names>Christian</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Janssen</surname><given-names>Bart</given-names></name><xref ref-type="aff" rid="A26">26</xref></contrib><contrib contrib-type="author"><name><surname>Jenkins</surname><given-names>Mark A</given-names></name><xref ref-type="aff" rid="A17">17</xref></contrib><contrib contrib-type="author"><name><surname>Jönsson</surname><given-names>Göran</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Kefford</surname><given-names>Richard F</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>Landi</surname><given-names>Giorgio</given-names></name><xref ref-type="aff" rid="A14">14</xref></contrib><contrib contrib-type="author"><name><surname>Landi</surname><given-names>Maria Teresa</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Lang</surname><given-names>Julie</given-names></name><xref ref-type="aff" rid="A28">28</xref></contrib><contrib contrib-type="author"><name><surname>Lubiński</surname><given-names>Jan</given-names></name><xref ref-type="aff" rid="A19">19</xref></contrib><contrib contrib-type="author"><name><surname>Mackie</surname><given-names>Rona</given-names></name><xref ref-type="aff" rid="A28">28</xref><xref ref-type="aff" rid="A29">29</xref></contrib><contrib contrib-type="author"><name><surname>Malvehy</surname><given-names>Josep</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Nicholas G</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Molven</surname><given-names>Anders</given-names></name><xref ref-type="aff" rid="A4">4</xref><xref ref-type="aff" rid="A5">5</xref></contrib><contrib contrib-type="author"><name><surname>Montgomery</surname><given-names>Grant W</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>van Nieuwpoort</surname><given-names>Frans A</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Novakovic</surname><given-names>Srdjan</given-names></name><xref ref-type="aff" rid="A24">24</xref></contrib><contrib contrib-type="author"><name><surname>Olsson</surname><given-names>Håkan</given-names></name><xref ref-type="aff" rid="A25">25</xref></contrib><contrib contrib-type="author"><name><surname>Pastorino</surname><given-names>Lorenza</given-names></name><xref ref-type="aff" rid="A11">11</xref></contrib><contrib contrib-type="author"><name><surname>Puig</surname><given-names>Susana</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Puig-Butille</surname><given-names>Joan Anton</given-names></name><xref ref-type="aff" rid="A30">30</xref></contrib><contrib contrib-type="author"><name><surname>Randerson-Moor</surname><given-names>Juliette</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Snowden</surname><given-names>Helen</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Tuominen</surname><given-names>Rainer</given-names></name><xref ref-type="aff" rid="A23">23</xref></contrib><contrib contrib-type="author"><name><surname>Van Belle</surname><given-names>Patricia</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>van der Stoep</surname><given-names>Nienke</given-names></name><xref ref-type="aff" rid="A9">9</xref></contrib><contrib contrib-type="author"><name><surname>Whiteman</surname><given-names>David C</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Zelenika</surname><given-names>Diana</given-names></name><xref ref-type="aff" rid="A32">32</xref></contrib><contrib contrib-type="author"><name><surname>Han</surname><given-names>Jiali</given-names></name><xref ref-type="aff" rid="A33">33</xref><xref ref-type="aff" rid="A34">34</xref><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Fang</surname><given-names>Shenying</given-names></name><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Jeffrey E</given-names></name><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Wei</surname><given-names>Qingyi</given-names></name><xref ref-type="aff" rid="A38">38</xref></contrib><contrib contrib-type="author"><name><surname>Lathrop</surname><given-names>G Mark</given-names></name><xref ref-type="aff" rid="A32">32</xref><xref ref-type="aff" rid="A16">16</xref></contrib><contrib contrib-type="author"><name><surname>Gillanders</surname><given-names>Elizabeth M</given-names></name><xref ref-type="aff" rid="A39">39</xref></contrib><contrib contrib-type="author"><name><surname>Brown</surname><given-names>Kevin M</given-names></name><xref ref-type="aff" rid="A40">40</xref></contrib><contrib contrib-type="author"><name><surname>Goldstein</surname><given-names>Alisa M</given-names></name><xref ref-type="aff" rid="A27">27</xref></contrib><contrib contrib-type="author"><name><surname>Kanetsky</surname><given-names>Peter A</given-names></name><xref ref-type="aff" rid="A41">41</xref></contrib><contrib contrib-type="author"><name><surname>Mann</surname><given-names>Graham J</given-names></name><xref ref-type="aff" rid="A6">6</xref></contrib><contrib contrib-type="author"><name><surname>MacGregor</surname><given-names>Stuart</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Elder</surname><given-names>David E</given-names></name><xref ref-type="aff" rid="A31">31</xref></contrib><contrib contrib-type="author"><name><surname>Amos</surname><given-names>Christopher I</given-names></name><xref ref-type="aff" rid="A42">42</xref></contrib><contrib contrib-type="author"><name><surname>Hayward</surname><given-names>Nicholas K</given-names></name><xref ref-type="aff" rid="A20">20</xref></contrib><contrib contrib-type="author"><name><surname>Gruis</surname><given-names>Nelleke A</given-names></name><xref ref-type="aff" rid="A10">10</xref></contrib><contrib contrib-type="author"><name><surname>Demenais</surname><given-names>Florence</given-names></name><xref ref-type="aff" rid="A12">12</xref><xref ref-type="aff" rid="A16">16</xref><xref ref-type="aff" rid="A43">43</xref></contrib><contrib contrib-type="author"><name><surname>Newton Bishop</surname><given-names>Julia A</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><contrib contrib-type="author"><name><surname>Bishop</surname><given-names>D Timothy</given-names></name><xref ref-type="aff" rid="A1">1</xref></contrib><on-behalf-of>on behalf of the GenoMEL Consortium</on-behalf-of><xref rid="FN3" ref-type="author-notes">+</xref></contrib-group><aff id="A1"><label>1</label>Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, Leeds Cancer Research UK Centre, St James's University Hospital, Leeds, UK</aff><aff id="A2"><label>2</label>Viertel Centre for Research in Cancer Control, The Cancer Council, Queensland, Spring Hill, Brisbane, Australia</aff><aff id="A3"><label>3</label>Pathology Clinic, Oslo University Hospital, Rikshospitalet, N-0027 Oslo, Norway</aff><aff id="A4"><label>4</label>The Gade Institute, University of Bergen, N-5020 Bergen, Norway</aff><aff id="A5"><label>5</label>Dept. of Pathology, Haukeland University Hospital, N-5021 Bergen, Norway</aff><aff id="A6"><label>6</label>Westmead Millennium Institute, PO Box 412, Darcy Rd, Westmead, NSW, 2145, Australia</aff><aff id="A7"><label>7</label>AP-HP, Hôpital Cochin, Service de Dermatologie, Faculté Paris 5, Paris, France</aff><aff id="A8"><label>8</label>Department of Dermatology, Sheba Medical Center, Tel Hashomer, Sackler Faculty of Medicine, Tel Aviv University, Israel</aff><aff id="A9"><label>9</label>Department of Clinical Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands</aff><aff id="A10"><label>10</label>Department of Dermatology, Leiden University Medical Centre, Leiden, The Netherlands</aff><aff id="A11"><label>11</label>Department of Internal Medicine (DIMI), University of Genoa, V. le Benedetto XV 6, 16132 Genova, Italy</aff><aff id="A12"><label>12</label>INSERM, U946, Fondation Jean-Dausset–CEPH, 75010 Paris, France</aff><aff id="A13"><label>13</label>Département de<underline>Biopathologie, Service de Génétique</underline>, Institut de Cancérologie Gustave Roussy, Villejuif, France</aff><aff id="A14"><label>14</label>Dermatology Unit, Maurizio Bufalini Hospital, 47023 Cesena, Italy</aff><aff id="A15"><label>15</label>Division of Genetic Epidemiology, Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, UT, USA</aff><aff id="A16"><label>16</label>Fondation Jean Dausset-CEPH, 75010, Paris, France</aff><aff id="A17"><label>17</label>Centre for Molecular, Environmental, Genetic and Analytic (MEGA) Epidemiology, School of Population Health, University of Melbourne, Melbourne, Australia</aff><aff id="A18"><label>18</label>Cancer Epidemiology and Services Research, Sydney School of Public Health, The University of Sydney, Sydney, Australia</aff><aff id="A19"><label>19</label>International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland</aff><aff id="A20"><label>20</label>Queensland Institute of Medical Research, 300 Herston Rd, Brisbane, Queensland 4029, Australia</aff><aff id="A21"><label>21</label>University of Cambridge, Cambridge, England, United Kingdom</aff><aff id="A22"><label>22</label>UMR U557 Inserm; U1125 Inra; Cnam; Paris 13, CRNH Idf, 74 rue Marcel Cachin F-93017 Bobigny</aff><aff id="A23"><label>23</label>Department of Oncology-Pathology, Karolinska Institutet, SE-171 77 Stockholm, Sweden</aff><aff id="A24"><label>24</label>Institute of Oncology Ljubljana, Zaloska 2, 1000 Ljubljana, Slovenia</aff><aff id="A25"><label>25</label>Department of Oncology, University Hospital Lund, Barngatan 2B, 221 85 Lund, Sweden</aff><aff id="A26"><label>26</label>ServiceXS, Plesmanlaan 1d, 2333 BZ Leiden, The Netherlands</aff><aff id="A27"><label>27</label>Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute. NIH, Bethesda, MD 20892-7236, USA</aff><aff id="A28"><label>28</label>Department of Medical Genetics, University of Glasgow, UK</aff><aff id="A29"><label>29</label>Public Health and Health Policy, University of Glasgow, UK</aff><aff id="A30"><label>30</label>Melanoma Unit, Dermatology Department, Hospital Clinic, IDIBAPS, Barcelona, Spain and CIBER de Enfermedades Raras, Barcelona, Spain</aff><aff id="A31"><label>31</label>Department of Pathology and Laboratory Medicine, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA</aff><aff id="A32"><label>32</label>Commissariat à l'énergie Atomique, Institut de Génomique, Centre National de Génotypage, Evry, France</aff><aff id="A33"><label>33</label>Department of Dermatology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A34"><label>34</label>Channing Laboratory, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA</aff><aff id="A35"><label>35</label>Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA</aff><aff id="A36"><label>36</label>Department of Epidemiology, The University of Texas, MD Anderson Cancer Center, Houston, Texas</aff><aff id="A37"><label>37</label>Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, Texas, USA</aff><aff id="A38"><label>38</label>Department of Epidemiology Unit 1365, UT MD Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA</aff><aff id="A39"><label>39</label>Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD 21224, USA</aff><aff id="A40"><label>40</label>Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Gaithersburg, MD 20892, USA</aff><aff id="A41"><label>41</label>Centre for Clinical Epidemiology & Biostatistics and Department of Biostatistics & Epidemiology, 219 Blockley Hall, University of Pennsylvania, USA</aff><aff id="A42"><label>42</label>Section of Computational and Genetic Epidemiology, Epidemiology, UT M.D. Anderson Cancer Center, 1155 Pressler St., Houston, TX 77030, USA</aff><aff id="A43"><label>43</label>Université Paris Diderot Paris 7, Institut Universitaire d'Hématologied'Hémtologie, Paris, France</aff><author-notes><corresp id="FN1">Corresponding Author: Prof D Timothy Bishop FMed Sci, Section of Epidemiology and Biostatistics, Leeds Institute of Molecular Medicine, University of Leeds, Cancer Genetics Building, St James's University Hospital, Beckett Street, LEEDS LS9 7TF, UK, <email>d.t.bishop@leeds.ac.uk</email>, Tel: +44-113-206-4573, FAX: +44-113-234-0183, Mobile: +44-7788415474</corresp><fn id="FN2" fn-type="equal"><label>*</label><p>Authors contributed equally to this work.</p></fn><fn id="FN3"><label>+</label><p>For a full list of GenoMEL members, please see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref></p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>21</day><month>11</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>09</day><month>10</month><year>2011</year></pub-date><pub-date pub-type="collection"><month>11</month><year>2011</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>5</month><year>2012</year></pub-date><volume>43</volume><issue>11</issue><fpage>1108</fpage><lpage>1113</lpage><pmc-comment>elocation-id from pubmed: 10.1038/ng.959</pmc-comment>
<permissions><license><license-p>Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: <ext-link ext-link-type="uri" xlink:href="http://www.nature.com/authors/editorial_policies/license.html#terms">http://www.nature.com/authors/editorial_policies/license.html#terms</ext-link></license-p></license></permissions><abstract><p id="P1">We report a genome-wide association study of melanoma, conducted by GenoMEL, of 2,981 cases, of European ancestry, and 1,982 study-specific controls, plus a further 6,426 French and UK population controls, all genotyped for 317,000 or 610,000 SNPs. The analysis confirmed previously known melanoma susceptibility loci. The 7 novel regions with at least one SNP with p<10<sup>−5</sup> and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Houston, Texas). Additional replication came from UK and Dutch case-control series. Three of the 7 regions replicated at p<10<sup>−3</sup>: an <italic>ATM</italic> missense polymorphism (rs1801516, overall p=3.4×10<sup>−9</sup>); a polymorphism within <italic>MX2</italic> (rs45430, p=2.9×10<sup>−9</sup>) and a SNP adjacent to <italic>CASP8</italic> (rs13016963, p=8.6×10<sup>−10</sup>). A fourth region near <italic>CCND1</italic> remains of potential interest, showing suggestive but inconclusive evidence of replication. Unlike the previously known regions, the novel loci showed no association with nevus or pigmentation phenotypes in a large UK case-control series.</p></abstract></article-meta></front><body><p id="P2">Cutaneous melanoma is predominantly a disease of fair-skinned individuals. Risk factors include a family history<sup><xref rid="R1" ref-type="bibr">1</xref></sup>, certain pigmentation phenotypes (notably the presence of fair skin, blue or green eyes, blond or red hair, sun sensitivity or an inability to tan<sup><xref rid="R2" ref-type="bibr">2</xref>-<xref rid="R5" ref-type="bibr">5</xref></sup>) and increased numbers of melanocytic nevi<sup><xref rid="R6" ref-type="bibr">6</xref>,<xref rid="R7" ref-type="bibr">7</xref></sup>. We previously reported Phase 1 of a genome-wide association (GWA) study of melanoma based on the Illumina 317k array<sup><xref rid="R8" ref-type="bibr">8</xref></sup>. This reinforced the importance of these genetically-determined melanoma-associated phenotypes, by showing the major common genetic determinants of risk in the populations considered were the <italic>MC1R</italic> locus (associated with red hair, freckling and sun sensitivity)<sup><xref rid="R4" ref-type="bibr">4</xref>,<xref rid="R5" ref-type="bibr">5</xref>,<xref rid="R9" ref-type="bibr">9</xref>,<xref rid="R10" ref-type="bibr">10</xref></sup>, tyrosinase (<italic>TYR</italic>) gene variants which code for skin color<sup><xref rid="R11" ref-type="bibr">11</xref></sup> and a region near <italic>CDKN2A</italic> and <italic>MTAP</italic> which is associated with number of melanocytic nevi<sup><xref rid="R8" ref-type="bibr">8</xref>,<xref rid="R12" ref-type="bibr">12</xref></sup>. Furthermore we confirmed the importance of a haplotype spanning the agouti signaling protein locus (<italic>ASIP</italic>)<sup><xref rid="R11" ref-type="bibr">11</xref>,<xref rid="R13" ref-type="bibr">13</xref></sup> and a second locus determining nevus count variation at 22q13 identified by a GWA study of nevus count<sup><xref rid="R12" ref-type="bibr">12</xref></sup>.</p><p id="P3">Both Phase 1 and Phase 2 of this study were carried out by the GenoMEL Consortium, a collaboration focusing on genetic susceptibility to melanoma. The study utilised samples collected by GenoMEL participants across populations of European ancestry living at different latitudes. In total, 14 GenoMEL groups contributed DNA samples from cases and controls of European (or Israeli) ethnicity (<xref rid="SD1" ref-type="supplementary-material">Supplementary Table 1</xref>). Phase 1 was based on 1,650 cases from Australian and European populations chosen to have a phenotype argued to “enrich” for genetic susceptibility (early onset, multiple primaries, or modest family history of melanoma). In Phase 2 a further 1,523 cases (1,211 of whom are genetically enriched: 532 with a family history, 277 with multiple primaries but no family history, and 402 with early disease onset but no multiple primaries or family history) and 1,112 controls were genotyped using the denser Illumina 610k array (see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref>). To optimise power for novel gene identification we combined the data from the two phases and performed an overall analysis. The Australian data used in Phase 1 were dropped from the combined Phase 1 + Phase 2 analysis as these samples are included in the Australian GWA study which formed one of the replication studies. After quality control was applied to SNPs and samples (see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref>), including Principal Components Analysis (PCA) to identify samples of non-European ethnicity (<xref rid="SD1" ref-type="supplementary-material">Supplementary Figure 1</xref>), the analysis utilised 2,804 cases (2,692 European and 112 Israeli) and 1,835 controls from GenoMEL studies and 5,783 controls from France and the UK Wellcome Trust Case-Control Consortium (WTCCC). A trend test, stratified by geographical region, was applied to each SNP (see Online Methods, also <xref rid="F1" ref-type="fig">Figure 1</xref>). Little evidence was found of population stratification (<italic>λ</italic>=1.06, see <xref rid="SD1" ref-type="supplementary-material">Supplementary Figure 5</xref>).</p><p id="P4">Strong evidence was found for the previously identified loci, (<xref rid="SD1" ref-type="supplementary-material">Supplementary Table 2, Supplementary Figures 2 and 3</xref>)<sup><xref rid="R8" ref-type="bibr">8</xref>,<xref rid="R11" ref-type="bibr">11</xref>-<xref rid="R18" ref-type="bibr">18</xref></sup> and another pigmentation gene, <italic>SLC45A2</italic>, already reported to be associated with melanoma risk<sup><xref rid="R15" ref-type="bibr">15</xref></sup>. <italic>SLC45A2</italic> is involved in melanosome maturation and pigmentation. The rs35390 SNP identified here is associated with melanoma<sup><xref rid="R15" ref-type="bibr">15</xref></sup> and with variation in hair color<sup><xref rid="R15" ref-type="bibr">15</xref>,<xref rid="R20" ref-type="bibr">20</xref></sup>, in accordance with the observed pattern of known melanoma pigmentation risk factors<sup><xref rid="R2" ref-type="bibr">2</xref>-<xref rid="R5" ref-type="bibr">5</xref></sup>.</p><p id="P5">We also confirmed a role for SNP rs401681 in the region of <italic>TERT</italic> and <italic>CLMPT1L</italic>, which has also previously been shown to modify melanoma risk<sup><xref rid="R18" ref-type="bibr">18</xref></sup> (<xref rid="SD1" ref-type="supplementary-material">Supplementary Table 2, Supplementary Figures 2 and 3</xref>)<sup><xref rid="R8" ref-type="bibr">8</xref>,<xref rid="R11" ref-type="bibr">11</xref>-<xref rid="R16" ref-type="bibr">16</xref>,<xref rid="R21" ref-type="bibr">21</xref></sup>. The confirmation of the SNP follows reported associations with risk of basal cell carcinomas, hematological malignancies and cancer of the bladder, cervix, lung, pancreas and prostate<sup><xref rid="R18" ref-type="bibr">18</xref>,<xref rid="R22" ref-type="bibr">22</xref></sup>. It was originally reported that the pattern of risk for melanoma was in the opposite direction to that for other cancers<sup><xref rid="R18" ref-type="bibr">18</xref></sup>, and we confirm this observation.</p><p id="P6">Seven further regions showed evidence of association with melanoma susceptibility (<xref rid="T1" ref-type="table">Table 1</xref> and <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3</xref>). Replication was sought from two other GWA studies for the SNPs with the strongest evidence, preferentially SNPs common to all arrays. In regions with no SNP common to all platforms, we followed up both our top genotyped SNPs and the most significant imputed SNPs which had been genotyped in the replication studies. Further, these SNPs were genotyped in a replication sample set from the UK and the Netherlands (1,579 cases and 2,036 controls in total, see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref>). <xref rid="T1" ref-type="table">Table 1</xref> contains the evidence from both the hypothesis-generating and replication datasets. Of these seven regions, three (on chromosomes 2 (rs13016963), 11 (rs1801516) and 21) showed strong evidence of replication (p<10<sup>−3</sup>), three (on chromosomes 2 (rs10932444), 12 and 13) showed no evidence of replication and one (on chromosome 11 (rs1485993)) showed marginal evidence of replication. Three of the loci showed overall combined evidence of association at p<5×10<sup>−8</sup>, based on the fixed effects meta-analysis.</p><p id="P7">The <italic>CASP8</italic> region (chromosome 2) contains a number of SNPs showing evidence for association with melanoma risk; because of the lack of overlap in the SNPs across arrays, we report multiple SNPs either genotyped or imputed across platforms, all of which show evidence of association (<xref rid="T1" ref-type="table">Table 1</xref>, <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3</xref>, <xref rid="F2" ref-type="fig">Figure 2</xref>). The strongest evidence for a single SNP is for rs700635 (p=2.4×10<sup>−9</sup>, OR=1.15 overall). All the SNPs are in the region of <italic>CASP8</italic>, which codes for a member of a family of proteases that play a critical role in the control of cell proliferation by inducing apoptotic cell death, making them candidate cancer susceptibility genes. A recent meta-analysis<sup><xref rid="R23" ref-type="bibr">23</xref></sup> of 3 polymorphisms in <italic>CASP8</italic> found that individuals with one or more copies of the D302H variant have a decreased risk of multiple types of cancer. In this study, the D302H variant could be imputed, but showed only marginal evidence of association (p=0.05), suggesting this is not a variant for melanoma. The evidence for melanoma risk was consistent across populations (<xref rid="F3" ref-type="fig">Figure 3</xref>).</p><p id="P8">The <italic>ATM</italic> SNP rs1801516 (chromosome 11) (<xref rid="T1" ref-type="table">Table 1</xref>, <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3</xref>, <xref rid="F2" ref-type="fig">Figure 2</xref>) is a missense mutation (D1853N, G > A) in a gene that codes for a protein which repairs double strand DNA breaks; association has been postulated between <italic>ATM</italic> and a number of cancer types<sup><xref rid="R24" ref-type="bibr">24</xref></sup>. For melanoma, the A allele is protective (p=3.4×10<sup>−9</sup>, OR=0.84 overall). Overall the evidence for melanoma is consistent across populations and case type, with no evidence of heterogeneity (<xref rid="F3" ref-type="fig">Figure 3</xref>).</p><p id="P9">The third replicated region, around <italic>MX2</italic> (chromosome 21), showed consistent effect sizes across the replication datasets (<xref rid="T1" ref-type="table">Table 1</xref>, <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3</xref>, <xref rid="F2" ref-type="fig">Figure 2</xref>) and across populations (<xref rid="F3" ref-type="fig">Figure 3</xref>). The SNP followed up in the replication study is rs45430 (p=2.9×10<sup>−9</sup>, OR=0.88 overall), which is intronic to <italic>MX2</italic> and has not previously been associated with cancer susceptibility.</p><p id="P10">A fourth region, adjacent to <italic>CCND1</italic> (chromosome 11), a proto-oncogene which is a key regulator of cell cycle progression, showed consistent effect sizes across all the replication sets (<xref rid="T1" ref-type="table">Table 1</xref>, <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3, Supplementary Figure 4</xref>), with best overall replication p-value of 0.011. However the replication sets produced a notably smaller OR (1.08) than the discovery set (1.19) (I<sup>2</sup>=0.507). This is potentially due to the well known Winner's Curse effect<sup><xref rid="R25" ref-type="bibr">25</xref></sup> that causes the initial discovery set to overestimate the OR, leading in turn to a discrepancy between the overall p-value based on fixed effects and random effects meta-analysis (p=1.7×10<sup>−7</sup> and p=0.00046 respectively). Thus, while we have strong support from this region, the evidence cannot be considered conclusive (see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref> for further details). However, further support comes from the interim analysis of a recently completed melanoma GWA study in494 melanoma cases and 5,628 controls from the Nurses' Health Study and Health Professionals Follow-up Study (OR=1.18 for rs1485993, p=0.014, unpublished data). This gene therefore remains a strong candidate, being well known in melanoma carcinogenesis<sup><xref rid="R26" ref-type="bibr">26</xref></sup>.</p><p id="P11">In Phase 1 of the study, all melanoma susceptibility loci identified were associated with either skin pigmentation or nevus count variation<sup><xref rid="R8" ref-type="bibr">8</xref></sup>. For the case-control samples from Leeds, UK, detailed nevus count and pigmentation information has been obtained for cases and controls<sup><xref rid="R27" ref-type="bibr">27</xref></sup>. <xref rid="T2" ref-type="table">Table 2</xref> shows the association between nevus count, pigmentation and all SNPs associated with melanoma. (Note that not all SNPs show convincing evidence of melanoma association within the Leeds case-control samples, reflecting limited power). As expected, <italic>MC1R, SLC45A2, IRF4</italic> and <italic>TYR</italic> are confirmed to be associated with pigmentation, while the rs4911442 SNP on chromosome 20 shows strong association with pigmentation, increasing the evidence that <italic>ASIP</italic> truly is the focus of this hit and implicating probable linkage disequilibrium (LD) with variants within an <italic>ASIP</italic> regulatory region. SNPs in the region of <italic>CDKN2A/MTAP</italic> and <italic>PLA2G6</italic> are associated with nevus variation. The <italic>TERT/CLMPT1L</italic> SNP is also associated with nevus count variation, suggesting its effect on melanoma risk modification may be via this mechanism. We previously showed that <italic>IRF4</italic> had a complex relationship with nevus count and melanoma risk<sup><xref rid="R14" ref-type="bibr">14</xref></sup>, and there are suggestions for SNPs in the <italic>CASP8</italic> region of a relationship between genotype and nevus count in controls; among cases the association is not apparent (<xref rid="T2" ref-type="table">Table 2</xref>). Finally, the SNPs in the <italic>ATM</italic> and <italic>MX2</italic> regions show no association with either nevus count or pigmentation, suggesting alternative, unknown mechanisms, although these require evaluation in other populations (see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref>).</p><p id="P12">Overall, we report 3 novel loci associated with melanoma risk, which achieve an overall significance level of 5×10<sup>−8</sup> based on the fixed effects meta-analysis, and a potential fourth locus. The power to detect SNPs with effect sizes similar to those estimated from the replication studies is low, and we see many more SNPs in novel regions (from across the genome) reaching p-values between 10<sup>−4</sup> and 10<sup>−5</sup> than expected (68 with MAF>0.05 compared with an expected 46), suggesting that there may be many other genetic regions with a similar effect on melanoma risk (see <xref rid="SD1" ref-type="supplementary-material">Supplementary Note</xref>). Currently 11 loci have been identified (<xref rid="T2" ref-type="table">Table 2</xref>), with a suggestion that 5 of these regions act through the pigmentation phenotype and at least 3 through the nevus phenotype, reflecting the major phenotype-associated risk factors for melanoma. Interestingly, at least two of the newly identified loci appear to influence risk through a novel mechanism, opening up potential new directions for melanoma research.</p><sec sec-type="supplementary-material" id="S1"><title>Supplementary Material</title><supplementary-material content-type="local-data" id="SD1"><label>1</label><media xlink:href="NIHMS335189-supplement-1.pdf" mimetype="application" mime-subtype="pdf" orientation="portrait" xlink:type="simple" id="d37e1330" position="anchor"></media></supplementary-material></sec></body><back><ack id="S2"><p>The authors are extremely grateful for the contributions of Daniela Seminara to the work of GenoMEL and also for the support of Geoff Cross (University of Leeds) for maintaining the study wiki. Overall, the GenoMEL Consortium is indebted to the organisational skills of Paul Affleck.</p><p>This study makes use of data generated by the Wellcome Trust Case Control Consortium. A full list of the investigators who contributed to the generation of the data is available from <ext-link ext-link-type="uri" xlink:href="http://www.wtccc.org.uk">www.wtccc.org.uk</ext-link>. Funding for the project was provided by the Wellcome Trust under award 076113.</p><p>The authors thank the EGEA cooperative group for having given access to data on the EGEA (Epidemiological study on the Genetics and Environment of Asthma) study. We acknowledge the biological specimens of the French Family study group were obtained from Institut Gustave Roussy and Fondation Jean Dausset-CEPH Biobanks.</p><p><italic>Financial Support</italic>: The GenoMEL study was funded by the European Commission under the 6th Framework Programme, contract no: LSHC-CT-2006-018702; by Cancer Research UK Programme Awards, C588/A4994 and C588/A10589, and Cancer Research UK Project Grant C8216/A6129; and by US National Institutes of Health R01 ROI CA83115. This research was also supported by the Intramural Research Program of the NIH, NCI, DCEG.</p><p><bold>Australia:</bold> Melanoma Research Alliance, the National Institutes of Health/National Cancer Institute (CA88363, CA83115, CA122838, CA87969, CA055075, CA100264, CA133996 and CA49449), the National Health and Medical Research Council of Australia (NHMRC) (107359, 200071, 241944, 339462, 380385, 389927, 389875, 389891, 389892, 389938, 402761, 443036, 442915, 442981, 496610, 496675, 496739, 552485, 552498), the Cancer Councils NSW, Victoria and Queensland, the Cancer Institute New South Wales, the Cooperative Research Centre for Discovery of Genes for Common Human Diseases (CRC), Cerylid Biosciences(Melbourne) and the Australian Cancer Research Foundation.</p><p><bold>Cambridge:</bold> Cancer Research UK awards: C8197/A10123, C8197/A10865 & C1287/A10118</p><p><bold>Emilia-Romagna:</bold> National Cancer Institute grants RO1 CA5558 to Maria Teresa Landi.</p><p><bold>Genoa:</bold> IRCSS 2007 Italian Ministry of Health DGRST.4/4235-P1.9.A.B, Fondazione CARIGE, PRIN 2008 to G.B.-S.</p><p><bold>Houston:</bold> NIH awards to MD Anderson RO1CA100264 and RO1CA33996.</p><p><bold>Leeds:</bold> Cancer Research UK Programme grants Genetic epidemiology of cancer C588/A10589, C588/A4994 and Cancer Research UK Project grant C8216/A6129.</p><p><bold>Leiden:</bold> Grant BBMRI CO18</p><p><bold>Lund:</bold> Swedish Cancer Society, Swedish Research Council, Region Skåne funds, Kamprad Foundation.</p><p><bold>Norway:</bold> Grants from the Comprehensive Cancer Center, Oslo University Hospital and the University of Bergen.</p><p><bold>Paris:</bold> Grants from Institut National du Cancer (INCa-PL016) and Ligue Nationale Contre Le Cancer (PRE05/FD and PRE 09/FD) to Florence Demenais, Programme Hospitalier de Recherche Clinique (PHRC 2007 / AOM-07-195) to Marie-Françoise Avriland Florence Demenais, Institut National du Cancer (Melanoma Network RS Number 13), Association pour la Recherche sur le Cancer (ARC N°A09/5/5003), and Société Française de Dermatologie (SFD2009) to Brigitte Bressac-de Paillerets. Brigitte Bressac-de Paillerets has been awarded an Inserm Research Fellowship for hospital-based scientists.</p><p><bold>Utah:</bold> NIH award to L. A. Cannon Albright RO1CA102422.</p></ack><fn-group><fn id="FN4" fn-type="con"><p><bold>Author Contributions:</bold> J.H.B. and M.M.I. led and carried out the statistical analysis, contributed to the design of the study and were members of the writing team; M.H. contributed to the design of the study and contributed genotyping information; J.C.T. carried out statistical analyses and was a member of the writing team; J.F.A., P.A.A., L.A.A., B.K.A., M.-F.A., E.A., W.B., D.C., A.E.C., D.D., A.D., D.F.E., E.F., P. Ghiorzo, G.G.G., M.H., V.H., C.I., M.A.J., G.J., G,L., M.T.L., J. Lang, R.M., J.M., N.G.M., A.M., G.W.M., S.N., L.P., J.A.P.-B., R.T., N. vander S. and D.C.W. contributed to the identification of suitable samples for the study; B.B. contributed to the design of the study and supervised the initial processing of samples; G.B.-S., K.M.B., B.B.-de P., L.A.C.-A., T.D., D.E.E., J.H., J.L.H., R.F.K., J. Lubiński, F.A. van N., H.O., S.P. and P.V.B. contributed to the design of the study; H.S. carried out genotyping and contributed to the interpretation of genotyping data; P. Galan, B.J., J.R.-M. and D.Z. contributed to the interpretation of genotyping data; J.H. contributed results of a confirmatory study; C.I.A., S.F., J.E.L. and Q.W. led and contributed analyses from the Houston study; N.K.H., G.J.M. and S.M. led and contributed results from the Australian study; G.M.L. contributed genotyping information and to the interpretation of genotype data; F.D., P.A.K., E.C., A.M.G. and E.M.G. advised on statistical analysis and contributed to the design of the study; N.A.G. was consortium deputy lead and contributed to the design of the study; J.A.N.B. was overall consortium lead and contributed to the design of the study; D.T.B. led the analysis group, contributed to the design of the study and was a member of the writing team.</p></fn><fn id="FN5"><p><underline>URLs</underline>: GenoMEL <ext-link ext-link-type="uri" xlink:href="http://www.genomel.org">www.genomel.org</ext-link></p><p>EGEA (Epidemiological study on the Genetics and Environment of Asthma) study, <ext-link ext-link-type="uri" xlink:href="http://cesp.vjf.inserm.fr/~egeanet">http://cesp.vjf.inserm.fr/∼egeanet</ext-link></p></fn></fn-group><ref-list><ref id="R1"><label>1</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Cannon-Albright</surname><given-names>LA</given-names></name><name><surname>Bishop</surname><given-names>DT</given-names></name><name><surname>Goldgar</surname><given-names>C</given-names></name><name><surname>Skolnick</surname><given-names>MH</given-names></name></person-group><article-title>Genetic predisposition to cancer</article-title><source>Important Adv Oncol</source><fpage>39</fpage><lpage>55</lpage><year>1991</year><pub-id pub-id-type="pmid">1869281</pub-id></element-citation></ref><ref id="R2"><label>2</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Naldi</surname><given-names>L</given-names></name><etal></etal></person-group><article-title>Cutaneous malignant melanoma in women. Phenotypic characteristics, sun exposure, and hormonal factors: a case-control study from Italy</article-title><source>Ann Epidemiol</source><volume>15</volume><fpage>545</fpage><lpage>50</lpage><year>2005</year><pub-id pub-id-type="pmid">16029848</pub-id></element-citation></ref><ref id="R3"><label>3</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Titus-Ernstoff</surname><given-names>L</given-names></name><etal></etal></person-group><article-title>Pigmentary characteristics and moles in relation to melanoma risk</article-title><source>Int J Cancer</source><volume>116</volume><fpage>144</fpage><lpage>9</lpage><year>2005</year><pub-id pub-id-type="pmid">15761869</pub-id></element-citation></ref><ref id="R4"><label>4</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Holly</surname><given-names>EA</given-names></name><name><surname>Aston</surname><given-names>DA</given-names></name><name><surname>Cress</surname><given-names>RD</given-names></name><name><surname>Ahn</surname><given-names>DK</given-names></name><name><surname>Kristiansen</surname><given-names>JJ</given-names></name></person-group><article-title>Cutaneous melanoma in women. I. Exposure to sunlight, ability to tan, and other risk factors related to ultraviolet light</article-title><source>Am J Epidemiol</source><volume>141</volume><fpage>923</fpage><lpage>33</lpage><year>1995</year><pub-id pub-id-type="pmid">7741122</pub-id></element-citation></ref><ref id="R5"><label>5</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Holly</surname><given-names>EA</given-names></name><name><surname>Aston</surname><given-names>DA</given-names></name><name><surname>Cress</surname><given-names>RD</given-names></name><name><surname>Ahn</surname><given-names>DK</given-names></name><name><surname>Kristiansen</surname><given-names>JJ</given-names></name></person-group><article-title>Cutaneous melanoma in women. II. Phenotypic characteristics and other host-related factors</article-title><source>Am J Epidemiol</source><volume>141</volume><fpage>934</fpage><lpage>42</lpage><year>1995</year><pub-id pub-id-type="pmid">7741123</pub-id></element-citation></ref><ref id="R6"><label>6</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bataille</surname><given-names>V</given-names></name><etal></etal></person-group><article-title>Risk of cutaneous melanoma in relation to the numbers, types and sites of naevi: a case-control study</article-title><source>Br J Cancer</source><volume>73</volume><fpage>1605</fpage><lpage>11</lpage><year>1996</year><pub-id pub-id-type="pmid">8664138</pub-id></element-citation></ref><ref id="R7"><label>7</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Chang</surname><given-names>YM</given-names></name><etal></etal></person-group><article-title>A pooled analysis of melanocytic nevus phenotype and the risk of cutaneous melanoma at different latitudes</article-title><source>Int J Cancer</source><volume>124</volume><fpage>420</fpage><lpage>8</lpage><year>2009</year><pub-id pub-id-type="pmid">18792098</pub-id></element-citation></ref><ref id="R8"><label>8</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Bishop</surname><given-names>DT</given-names></name><etal></etal></person-group><article-title>Genome-wide association study identifies three loci associated with melanoma risk</article-title><source>Nat Genet</source><volume>41</volume><fpage>920</fpage><lpage>5</lpage><year>2009</year><pub-id pub-id-type="pmid">19578364</pub-id></element-citation></ref><ref id="R9"><label>9</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Raimondi</surname><given-names>S</given-names></name><etal></etal></person-group><article-title>MC1R variants, melanoma and red hair color phenotype: a meta-analysis</article-title><source>Int J Cancer</source><volume>122</volume><fpage>2753</fpage><lpage>60</lpage><year>2008</year><pub-id pub-id-type="pmid">18366057</pub-id></element-citation></ref><ref id="R10"><label>10</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Kanetsky</surname><given-names>PA</given-names></name><etal></etal></person-group><article-title>Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma</article-title><source>Cancer Res</source><volume>66</volume><fpage>9330</fpage><lpage>7</lpage><year>2006</year><pub-id pub-id-type="pmid">16982779</pub-id></element-citation></ref><ref id="R11"><label>11</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Gudbjartsson</surname><given-names>DF</given-names></name><etal></etal></person-group><article-title>ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma</article-title><source>Nat Genet</source><volume>40</volume><fpage>886</fpage><lpage>91</lpage><year>2008</year><pub-id pub-id-type="pmid">18488027</pub-id></element-citation></ref><ref id="R12"><label>12</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Falchi</surname><given-names>M</given-names></name><etal></etal></person-group><article-title>Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi</article-title><source>Nat Genet</source><volume>41</volume><fpage>915</fpage><lpage>9</lpage><year>2009</year><pub-id pub-id-type="pmid">19578365</pub-id></element-citation></ref><ref id="R13"><label>13</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Brown</surname><given-names>KM</given-names></name><etal></etal></person-group><article-title>Common sequence variants on 20q11.22 confer melanoma susceptibility</article-title><source>Nat Genet</source><volume>40</volume><fpage>838</fpage><lpage>40</lpage><year>2008</year><pub-id pub-id-type="pmid">18488026</pub-id></element-citation></ref><ref id="R14"><label>14</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Duffy</surname><given-names>DL</given-names></name><etal></etal></person-group><article-title>IRF4 variants have age-specific effects on nevus count and predispose to melanoma</article-title><source>Am J Hum Genet</source><volume>87</volume><fpage>6</fpage><lpage>16</lpage><year>2010</year><pub-id pub-id-type="pmid">20602913</pub-id></element-citation></ref><ref id="R15"><label>15</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Duffy</surname><given-names>DL</given-names></name><etal></etal></person-group><article-title>Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma</article-title><source>J Invest Dermatol</source><volume>130</volume><fpage>520</fpage><lpage>8</lpage><year>2010</year><pub-id pub-id-type="pmid">19710684</pub-id></element-citation></ref><ref id="R16"><label>16</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Guedj</surname><given-names>M</given-names></name><etal></etal></person-group><article-title>Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population</article-title><source>Hum Mutat</source><volume>29</volume><fpage>1154</fpage><lpage>60</lpage><year>2008</year><pub-id pub-id-type="pmid">18683857</pub-id></element-citation></ref><ref id="R17"><label>17</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Nan</surname><given-names>H</given-names></name><name><surname>Kraft</surname><given-names>P</given-names></name><name><surname>Hunter</surname><given-names>DJ</given-names></name><name><surname>Han</surname><given-names>J</given-names></name></person-group><article-title>Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians</article-title><source>Int J Cancer</source><volume>125</volume><fpage>909</fpage><lpage>17</lpage><year>2009</year><pub-id pub-id-type="pmid">19384953</pub-id></element-citation></ref><ref id="R18"><label>18</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Rafnar</surname><given-names>T</given-names></name><etal></etal></person-group><article-title>Sequence variants at the TERT-CLPTM1L locus associate with many cancer types</article-title><source>Nat Genet</source><volume>41</volume><fpage>221</fpage><lpage>7</lpage><year>2009</year><pub-id pub-id-type="pmid">19151717</pub-id></element-citation></ref><ref id="R19"><label>19</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Pruim</surname><given-names>RJ</given-names></name><etal></etal></person-group><article-title>LocusZoom: regional visualization of genome-wide association scan results</article-title><source>Bioinformatics</source><volume>26</volume><fpage>2336</fpage><lpage>7</lpage><year>2010</year><pub-id pub-id-type="pmid">20634204</pub-id></element-citation></ref><ref id="R20"><label>20</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Han</surname><given-names>J</given-names></name><etal></etal></person-group><article-title>A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation</article-title><source>PLoS Genet</source><volume>4</volume><fpage>e1000074</fpage><year>2008</year><pub-id pub-id-type="pmid">18483556</pub-id></element-citation></ref><ref id="R21"><label>21</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Fernandez</surname><given-names>LP</given-names></name><etal></etal></person-group><article-title>SLC45A2: a novel malignant melanoma-associated gene</article-title><source>Hum Mutat</source><volume>29</volume><fpage>1161</fpage><lpage>7</lpage><year>2008</year><pub-id pub-id-type="pmid">18563784</pub-id></element-citation></ref><ref id="R22"><label>22</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Baird</surname><given-names>DM</given-names></name></person-group><article-title>Variation at the TERT locus and predisposition for cancer</article-title><source>Expert reviews in molecular medicine</source><volume>12</volume><fpage>e16</fpage><year>2010</year><pub-id pub-id-type="pmid">20478107</pub-id></element-citation></ref><ref id="R23"><label>23</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Yin</surname><given-names>M</given-names></name><name><surname>Yan</surname><given-names>J</given-names></name><name><surname>Wei</surname><given-names>S</given-names></name><name><surname>Wei</surname><given-names>Q</given-names></name></person-group><article-title>CASP8 polymorphisms contribute to cancer susceptibility: evidence from a meta-analysis of 23 publications with 55 individual studies</article-title><source>Carcinogenesis</source><volume>31</volume><fpage>850</fpage><lpage>7</lpage><year>2010</year><pub-id pub-id-type="pmid">20176653</pub-id></element-citation></ref><ref id="R24"><label>24</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Lavin</surname><given-names>MF</given-names></name></person-group><article-title>Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer</article-title><source>Nature reviews Molecular cell biology</source><volume>9</volume><fpage>759</fpage><lpage>69</lpage><year>2008</year><pub-id pub-id-type="pmid">18813293</pub-id></element-citation></ref><ref id="R25"><label>25</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Garner</surname><given-names>C</given-names></name></person-group><article-title>Upward bias in odds ratio estimates from genome-wide association studies</article-title><source>Genetic epidemiology</source><volume>31</volume><fpage>288</fpage><lpage>95</lpage><year>2007</year><pub-id pub-id-type="pmid">17266119</pub-id></element-citation></ref><ref id="R26"><label>26</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Curtin</surname><given-names>JA</given-names></name><etal></etal></person-group><article-title>Distinct sets of genetic alterations in melanoma</article-title><source>N Engl J Med</source><volume>353</volume><fpage>2135</fpage><lpage>47</lpage><year>2005</year><pub-id pub-id-type="pmid">16291983</pub-id></element-citation></ref><ref id="R27"><label>27</label><element-citation publication-type="journal"><person-group person-group-type="author"><name><surname>Newton-Bishop</surname><given-names>JA</given-names></name><etal></etal></person-group><article-title>Melanocytic nevi, nevus genes, and melanoma risk in a large case-control study in the United Kingdom</article-title><source>Cancer Epidemiol Biomarkers Prev</source><volume>19</volume><fpage>2043</fpage><lpage>54</lpage><year>2010</year><pub-id pub-id-type="pmid">20647408</pub-id></element-citation></ref></ref-list></back><floats-group><fig id="F1" orientation="portrait" position="float"><label>Figure 1</label><caption><p>Manhattan plot of results of Cochran-Armitage (CA) trend test stratified by geographic region, with -log<sub>10</sub> p-values shown. The solid horizontal line indicates a p-value of 10<sup>−5</sup>. Markers within 50kb of a SNP associated with melanoma are marked in black for those identified in a previous GWA and replicated here and marked in red if first identified in the current study. The y-axis is truncated at p=10<sup>−15</sup>, although three SNPs in the <italic>MC1R</italic> region have stronger p-values, up to 2.7×10<sup>−27</sup>, as signified by the box and arrow.</p></caption><graphic xlink:href="nihms335189f1"></graphic></fig><fig id="F2" orientation="portrait" position="float"><label>Figure 2</label><caption><p>Stratified CA trend tests for the three replicated regions on chromosomes 2, 11 and 21. The log<sub>10</sub> p-values are from the CA trend test (stratified by geographical region) for genotyped and imputed SNPs, indicated on the left-hand vertical axis. SNPs genotyped for all samples are plotted as circles, SNPs imputed for all samples as crosses and SNPs genotyped for some samples and imputed for others (due to chip differences) as squares. The most significant genotyped SNP is colored purple (with its name above) and the degree of LD between that SNP and the others is indicated by color according to the key (red being the greatest degree of LD). The estimated recombination rate is given by the blue line and indicated on the right-hand vertical axis. The genes in the region and their positions are given underneath the graph. Plots produced using LocusZoom<sup><xref rid="R19" ref-type="bibr">19</xref></sup>.</p></caption><graphic xlink:href="nihms335189f2"></graphic></fig><fig id="F3" orientation="portrait" position="float"><label>Figure 3</label><caption><p>Forest plot of the per-allele OR for melanoma for SNPs in the 3 regions first identified in this study. Plots show the current evidence for effects by geography, in the genome-wide and replication samples, and by case type (family history, multiple primaries or early onset).</p></caption><graphic xlink:href="nihms335189f3"></graphic></fig><table-wrap id="T1" orientation="landscape" position="float"><label>Table 1</label><caption><p>Summary of results from this study for the 4 regions showing evidence of replication, listing each SNP under consideration, their position (in bp) and minor allele frequency (MAF); the per-allele OR (based on the minor allele) and p-value are given for this GWA study, for the meta-analysis of the replication data sets (from the Houston GWA study, the Australian GWA study and UK/Netherlands replication samples) and for the combined genome-wide and replication analyses. The Houston GWA study and the Australian study both used a different array to the current study for at least some samples, so some of their results presented here include imputed data. Further genotyping was conducted in the UK and Netherlands replication samples for SNPs with positive support from the GWA replication data. All meta-analyses are based on a fixed effects model with the exception of those for <italic>CCND1</italic>, marked with an asterisk, where random effects analysis was used because of the observed heterogeneity. <xref rid="SD1" ref-type="supplementary-material">Supplementary Table 3</xref> is a fuller version of this table.</p></caption><table frame="box" rules="groups"><thead><tr><th valign="bottom" align="left" rowspan="1" colspan="1">SNP</th><th valign="bottom" align="center" rowspan="1" colspan="1">Chromosome</th><th valign="bottom" align="left" rowspan="1" colspan="1">Position</th><th valign="bottom" align="center" rowspan="1" colspan="1">Allele</th><th valign="bottom" align="center" rowspan="1" colspan="1">MAF</th><th colspan="2" valign="bottom" align="center" rowspan="1">GenoMEL Genome-wide</th><th colspan="2" valign="bottom" align="center" rowspan="1">Replication samples (genotyped + imputed)</th><th colspan="2" valign="bottom" align="center" rowspan="1">Genome-wide plus replication samples (genotyped + imputed)</th><th valign="bottom" align="center" rowspan="1" colspan="1">Postulated gene</th></tr><tr><th valign="top" align="left" rowspan="1" colspan="1"></th><th valign="top" align="center" rowspan="1" colspan="1"></th><th valign="top" align="left" rowspan="1" colspan="1"></th><th valign="top" align="center" rowspan="1" colspan="1"></th><th valign="top" align="center" rowspan="1" colspan="1"></th><th valign="bottom" colspan="6" rowspan="1"><hr></hr></th><th valign="top" align="center" rowspan="1" colspan="1"></th></tr><tr><th valign="middle" align="left" rowspan="1" colspan="1"></th><th valign="middle" align="center" rowspan="1" colspan="1"></th><th valign="middle" align="left" rowspan="1" colspan="1"></th><th valign="middle" align="center" rowspan="1" colspan="1"></th><th valign="middle" align="center" rowspan="1" colspan="1"></th><th valign="middle" align="center" rowspan="1" colspan="1">OR</th><th valign="bottom" align="center" rowspan="1" colspan="1">p</th><th valign="middle" align="center" rowspan="1" colspan="1">OR and 95% CI</th><th valign="middle" align="center" rowspan="1" colspan="1">P-value</th><th valign="middle" align="center" rowspan="1" colspan="1">OR and 95% CI</th><th valign="middle" align="center" rowspan="1" colspan="1">P-value</th><th valign="middle" align="center" rowspan="1" colspan="1"></th></tr></thead><tbody><tr><td align="left" valign="top" rowspan="1" colspan="1">rs13016963</td><td align="center" valign="top" rowspan="1" colspan="1">2</td><td align="left" valign="top" rowspan="1" colspan="1">201852173</td><td align="center" valign="top" rowspan="1" colspan="1">A</td><td align="center" valign="top" rowspan="1" colspan="1">0.37</td><td align="center" valign="top" rowspan="1" colspan="1">1.18</td><td align="center" valign="top" rowspan="1" colspan="1">5.68 × 10<sup>−7</sup></td><td align="center" valign="top" rowspan="1" colspan="1">1.11 (1.06, 1.18)</td><td align="center" valign="top" rowspan="1" colspan="1">9.2 × 10<sup>−5</sup></td><td align="center" valign="top" rowspan="1" colspan="1">1.14 (1.09, 1.19)</td><td align="center" valign="top" rowspan="1" colspan="1">8.6 × 10<sup>−10</sup></td><td align="center" valign="top" rowspan="1" colspan="1">CASP8</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">rs1485993</td><td align="center" valign="top" rowspan="1" colspan="1">11</td><td align="left" valign="top" rowspan="1" colspan="1">69071595</td><td align="center" valign="top" rowspan="1" colspan="1">A</td><td align="center" valign="top" rowspan="1" colspan="1">0.37</td><td align="center" valign="top" rowspan="1" colspan="1">1.19</td><td align="center" valign="top" rowspan="1" colspan="1">4.15 × 10<sup>−7</sup></td><td align="center" valign="top" rowspan="1" colspan="1">1.07 (1.01, 1.13)</td><td align="center" valign="top" rowspan="1" colspan="1">0.017</td><td align="center" valign="top" rowspan="1" colspan="1">1.11 (1.04, 1.18)<xref rid="TFN1" ref-type="table-fn">*</xref></td><td align="center" valign="top" rowspan="1" colspan="1">0.0012</td><td align="center" valign="top" rowspan="1" colspan="1">CCND1</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">rs1801516</td><td align="center" valign="top" rowspan="1" colspan="1">11</td><td align="left" valign="top" rowspan="1" colspan="1">107680672</td><td align="center" valign="top" rowspan="1" colspan="1">A</td><td align="center" valign="top" rowspan="1" colspan="1">0.13</td><td align="center" valign="top" rowspan="1" colspan="1">0.79</td><td align="center" valign="top" rowspan="1" colspan="1">4.80 × 10<sup>−7</sup></td><td align="center" valign="top" rowspan="1" colspan="1">0.87 (0.78, 0.90)</td><td align="center" valign="top" rowspan="1" colspan="1">3.4 × 10<sup>−4</sup></td><td align="center" valign="top" rowspan="1" colspan="1">0.84 (0.78, 0.90)</td><td align="center" valign="top" rowspan="1" colspan="1">3.4 × 10<sup>−9</sup></td><td align="center" valign="top" rowspan="1" colspan="1">ATM</td></tr><tr><td align="left" valign="top" rowspan="1" colspan="1">rs45430</td><td align="center" valign="top" rowspan="1" colspan="1">21</td><td align="left" valign="top" rowspan="1" colspan="1">41667951</td><td align="center" valign="top" rowspan="1" colspan="1">G</td><td align="center" valign="top" rowspan="1" colspan="1">0.39</td><td align="center" valign="top" rowspan="1" colspan="1">0.85</td><td align="center" valign="top" rowspan="1" colspan="1">5.60 × 10<sup>−7</sup></td><td align="center" valign="top" rowspan="1" colspan="1">0.91 (0.86, 0.96)</td><td align="center" valign="top" rowspan="1" colspan="1">4.2 × 10<sup>−4</sup></td><td align="center" valign="top" rowspan="1" colspan="1">0.88 (0.85, 0.92)</td><td align="center" valign="top" rowspan="1" colspan="1">2.9 × 10<sup>−9</sup></td><td align="center" valign="top" rowspan="1" colspan="1">MX2</td></tr></tbody></table><table-wrap-foot><fn id="TFN1"><label>*</label><p>Using random effects</p></fn></table-wrap-foot></table-wrap><table-wrap id="T2" orientation="landscape" position="float"><label>Table 2</label><caption><p>Summary of results for nevus count/pigmentation/melanoma analyses from the Leeds case-control samples examining the 11 SNPs replicated for melanoma association in this or previous studies. Results are shown for (i) the proportion and significance of log nevus count variation explained by each SNP, adjusted for age and sex among cases and controls (adjusted for case-control status), (ii) the proportion and significance of case-control adjusted pigmentation variation score explained by each SNP, where the score is calculated from factor analysis of 6 correlated pigmentation phenotypes (see Online Methods), (iii) the association with melanoma risk (both as per-allele OR with 95%CI, and by genotype (compared to a baseline of the homozygote for the common allele)).</p></caption><table frame="box" rules="groups"><thead><tr><th valign="bottom" align="center" rowspan="1" colspan="1">Chromosomal Region</th><th valign="bottom" align="left" rowspan="1" colspan="1">Postulated gene</th><th valign="bottom" align="left" rowspan="1" colspan="1">SNP</th><th valign="bottom" align="center" rowspan="1" colspan="1">MAF</th><th colspan="2" valign="bottom" align="center" rowspan="1">% of variation in log nevus count explained by SNP</th><th colspan="2" valign="bottom" align="center" rowspan="1">% of variation in pigmentation explained by SNP</th><th valign="bottom" align="center" rowspan="1" colspan="1">Per-allele OR (95% CI) for risk of melanoma</th><th valign="bottom" align="center" rowspan="1" colspan="1">OR (95% CI) for risk of melanoma with one copy of Minor allele</th><th valign="bottom" align="center" rowspan="1" colspan="1">OR (95% CI) for risk of melanoma with two copies of Minor allele</th></tr><tr><th valign="bottom" align="center" rowspan="1" colspan="1"></th><th valign="bottom" align="left" rowspan="1" colspan="1"></th><th valign="bottom" align="left" rowspan="1" colspan="1"></th><th valign="bottom" align="center" rowspan="1" colspan="1"></th><th valign="bottom" align="center" rowspan="1" colspan="1">R<sup>2</sup></th><th valign="bottom" align="center" rowspan="1" colspan="1">P</th><th valign="bottom" align="center" rowspan="1" colspan="1">R<sup>2</sup></th><th valign="bottom" align="center" rowspan="1" colspan="1">P</th><th valign="bottom" align="center" rowspan="1" colspan="1"></th><th valign="bottom" align="center" rowspan="1" colspan="1"></th><th valign="bottom" align="center" rowspan="1" colspan="1"></th></tr></thead><tbody><tr><td align="center" valign="top" rowspan="1" colspan="1">2q33-q34</td><td align="left" valign="top" rowspan="1" colspan="1">CASP8</td><td align="left" valign="top" rowspan="1" colspan="1">rs13016963</td><td align="center" valign="top" rowspan="1" colspan="1">0.33</td><td align="center" valign="top" rowspan="1" colspan="1">0.21</td><td align="center" valign="top" rowspan="1" colspan="1">0.083<xref rid="TFN2" ref-type="table-fn">*</xref></td><td align="center" valign="top" rowspan="1" colspan="1">0.05</td><td align="center" valign="top" rowspan="1" colspan="1">0.33</td><td align="center" valign="top" rowspan="1" colspan="1">1.25 (1.07, 1.46)</td><td align="center" valign="top" rowspan="1" colspan="1">1.26 (1.01, 1.56)</td><td align="center" valign="top" rowspan="1" colspan="1">1.56 (1.11, 2.18)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">5p15.33</td><td align="left" valign="top" rowspan="1" colspan="1">TERT/CLMPT1L</td><td align="left" valign="top" rowspan="1" colspan="1">rs401681</td><td align="center" valign="top" rowspan="1" colspan="1">0.46</td><td align="center" valign="top" rowspan="1" colspan="1">0.50</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>0.0070</bold></td><td align="center" valign="top" rowspan="1" colspan="1">0.13</td><td align="center" valign="top" rowspan="1" colspan="1">0.11</td><td align="center" valign="top" rowspan="1" colspan="1">1.08 (0.93, 1.25)</td><td align="center" valign="top" rowspan="1" colspan="1">1.15 (0.90, 1.47)</td><td align="center" valign="top" rowspan="1" colspan="1">1.15 (0.85, 1.55)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">5p13.2</td><td align="left" valign="top" rowspan="1" colspan="1">SLC45A2</td><td align="left" valign="top" rowspan="1" colspan="1">rs16891982</td><td align="center" valign="top" rowspan="1" colspan="1">0.03</td><td align="center" valign="top" rowspan="1" colspan="1">0.02</td><td align="center" valign="top" rowspan="1" colspan="1">0.62</td><td align="center" valign="top" rowspan="1" colspan="1">1.33</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>1.9 × 10<sup>−6</sup></bold></td><td align="center" valign="top" rowspan="1" colspan="1">0.72 (0.44, 1.18)</td><td align="center" valign="top" rowspan="1" colspan="1">0.78 (0.47, 1.30)</td><td align="center" valign="top" rowspan="1" colspan="1">NA</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">6p25-p23</td><td align="left" valign="top" rowspan="1" colspan="1">IRF4</td><td align="left" valign="top" rowspan="1" colspan="1">rs12203592</td><td align="center" valign="top" rowspan="1" colspan="1">0.24</td><td align="center" valign="top" rowspan="1" colspan="1">0.21</td><td align="center" valign="top" rowspan="1" colspan="1">0.084</td><td align="center" valign="top" rowspan="1" colspan="1">2.76</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>5.6 × 10<sup>−12</sup></bold></td><td align="center" valign="top" rowspan="1" colspan="1">0.80 (0.67, 0.95)</td><td align="center" valign="top" rowspan="1" colspan="1">0.72 (0.58, 0.91)</td><td align="center" valign="top" rowspan="1" colspan="1">0.81 (0.49, 1.35)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">9p21</td><td align="left" valign="top" rowspan="1" colspan="1">CDKN2A/MTAP</td><td align="left" valign="top" rowspan="1" colspan="1">rs7023329</td><td align="center" valign="top" rowspan="1" colspan="1">0.49</td><td align="center" valign="top" rowspan="1" colspan="1">0.29</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>0.047</bold></td><td align="center" valign="top" rowspan="1" colspan="1">0.02</td><td align="center" valign="top" rowspan="1" colspan="1">0.55</td><td align="center" valign="top" rowspan="1" colspan="1">0.86 (0.73, 1.00)</td><td align="center" valign="top" rowspan="1" colspan="1">0.62 (0.47, 0.82)</td><td align="center" valign="top" rowspan="1" colspan="1">0.73 (0.53, 1.01)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">11q14-q21</td><td align="left" valign="top" rowspan="1" colspan="1">TYR</td><td align="left" valign="top" rowspan="1" colspan="1">rs1393350</td><td align="center" valign="top" rowspan="1" colspan="1">0.27</td><td align="center" valign="top" rowspan="1" colspan="1">0.00</td><td align="center" valign="top" rowspan="1" colspan="1">0.95</td><td align="center" valign="top" rowspan="1" colspan="1">1.07</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>2.0 × 10<sup>−5</sup></bold></td><td align="center" valign="top" rowspan="1" colspan="1">1.34 (1.14, 1.58)</td><td align="center" valign="top" rowspan="1" colspan="1">1.19 (0.96, 1.49)</td><td align="center" valign="top" rowspan="1" colspan="1">2.12 (1.41, 3.19)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">11q22-q23</td><td align="left" valign="top" rowspan="1" colspan="1">ATM</td><td align="left" valign="top" rowspan="1" colspan="1">rs1801516</td><td align="center" valign="top" rowspan="1" colspan="1">0.14</td><td align="center" valign="top" rowspan="1" colspan="1">0.07</td><td align="center" valign="top" rowspan="1" colspan="1">0.33</td><td align="center" valign="top" rowspan="1" colspan="1">0.00</td><td align="center" valign="top" rowspan="1" colspan="1">0.95</td><td align="center" valign="top" rowspan="1" colspan="1">0.88 (0.71, 1.09)</td><td align="center" valign="top" rowspan="1" colspan="1">0.93 (0.73, 1.19)</td><td align="center" valign="top" rowspan="1" colspan="1">0.59 (0.29, 1.21)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">16q24.3</td><td align="left" valign="top" rowspan="1" colspan="1">MC1R</td><td align="left" valign="top" rowspan="1" colspan="1">rs258322</td><td align="center" valign="top" rowspan="1" colspan="1">0.10</td><td align="center" valign="top" rowspan="1" colspan="1">0.00</td><td align="center" valign="top" rowspan="1" colspan="1">0.81</td><td align="center" valign="top" rowspan="1" colspan="1">4.00</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>9.0 × 10<sup>−17</sup></bold></td><td align="center" valign="top" rowspan="1" colspan="1">1.83 (1.44, 2.32)</td><td align="center" valign="top" rowspan="1" colspan="1">1.71 (1.33, 2.22)</td><td align="center" valign="top" rowspan="1" colspan="1">7.14 (1.70, 29.98)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">20q11.2-q12</td><td align="left" valign="top" rowspan="1" colspan="1">ASIP</td><td align="left" valign="top" rowspan="1" colspan="1">rs4911442</td><td align="center" valign="top" rowspan="1" colspan="1">0.13</td><td align="center" valign="top" rowspan="1" colspan="1">0.07</td><td align="center" valign="top" rowspan="1" colspan="1">0.34</td><td align="center" valign="top" rowspan="1" colspan="1">0.93</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>8.2 × 10<sup>−5</sup></bold></td><td align="center" valign="top" rowspan="1" colspan="1">1.35 (1.08, 1.68)</td><td align="center" valign="top" rowspan="1" colspan="1">1.32 (1.03, 1.69)</td><td align="center" valign="top" rowspan="1" colspan="1">2.06 (0.85, 5.00)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">21q22.3</td><td align="left" valign="top" rowspan="1" colspan="1">MX2</td><td align="left" valign="top" rowspan="1" colspan="1">rs45430</td><td align="center" valign="top" rowspan="1" colspan="1">0.38</td><td align="center" valign="top" rowspan="1" colspan="1">0.00</td><td align="center" valign="top" rowspan="1" colspan="1">0.80</td><td align="center" valign="top" rowspan="1" colspan="1">0.05</td><td align="center" valign="top" rowspan="1" colspan="1">0.32</td><td align="center" valign="top" rowspan="1" colspan="1">0.90 (0.77, 1.05)</td><td align="center" valign="top" rowspan="1" colspan="1">0.97 (0.77, 1.22)</td><td align="center" valign="top" rowspan="1" colspan="1">0.77 (0.56, 1.07)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1">22q13.1</td><td align="left" valign="top" rowspan="1" colspan="1">PLA2G6</td><td align="left" valign="top" rowspan="1" colspan="1">rs6001027</td><td align="center" valign="top" rowspan="1" colspan="1">0.37</td><td align="center" valign="top" rowspan="1" colspan="1">0.39</td><td align="center" valign="top" rowspan="1" colspan="1"><bold>0.018</bold></td><td align="center" valign="top" rowspan="1" colspan="1">0.12</td><td align="center" valign="top" rowspan="1" colspan="1">0.16</td><td align="center" valign="top" rowspan="1" colspan="1">0.78 (0.66, 0.91)</td><td align="center" valign="top" rowspan="1" colspan="1">0.79 (0.63, 0.90)</td><td align="center" valign="top" rowspan="1" colspan="1">0.60 (0.42, 0.84)</td></tr><tr><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="left" valign="top" rowspan="1" colspan="1"><bold>TOTAL</bold></td><td align="left" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1">2.33</td><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1">9.83</td><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1"></td><td align="center" valign="top" rowspan="1" colspan="1"></td></tr></tbody></table><table-wrap-foot><fn id="TFN2"><label>*</label><p>p = 0.004 for controls only</p></fn></table-wrap-foot></table-wrap></floats-group></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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