Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies
Identifieur interne : 005540 ( Main/Merge ); précédent : 005539; suivant : 005541Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies
Auteurs : Sara Raimondi [Italie] ; Sara Gandini [Italie] ; Maria Concetta Fargnoli [Italie] ; Vincenzo Bagnardi [Italie] ; Patrick Maisonneuve [Italie] ; Claudia Specchia [Italie] ; Rajiv Kumar [Allemagne] ; Eduardo Nagore [Espagne] ; Jiali Han [États-Unis] ; Johan Hansson [Suède] ; Peter A. Kanetsky [États-Unis] ; Paola Ghiorzo [Italie] ; Nelleke A. Gruis [Pays-Bas] ; Terry Dwyer [Australie] ; Leigh Blizzard [Australie] ; Ricardo Fernandez-De-Misa [Espagne] ; Wojciech Branicki ; Tadeusz Debniak [Pologne] ; Niels Morling [Danemark] ; Maria Teresa Landi [États-Unis] ; Giuseppe Palmieri [Italie] ; Gloria Ribas [Espagne] ; Alexander Stratigos [Grèce] ; Lynn Cornelius [États-Unis] ; Tomonori Motokawa [Japon] ; Sumiko Anno [Japon] ; Per Helsing [Norvège] ; Terence H. Wong [Royaume-Uni] ; Philippe Autier [France] ; José C. García-Borr N [Espagne] ; Julian Little [Canada] ; Julia Newton-Bishop [Royaume-Uni] ; Francesco Sera [Royaume-Uni] ; Fan Liu [Pays-Bas] ; Manfred Kayser [Pays-Bas] ; Tamar Nijsten [Pays-Bas]Source :
- BMC Medical Research Methodology [ 1471-2288 ] ; 2012.
Abstract
For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia.
Based on our experience with the study design of the Melanocortin-1 receptor (
Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.
Url:
DOI: 10.1186/1471-2288-12-116
PubMed: 22862891
PubMed Central: 3502117
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receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies</title>
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<author><name sortKey="Sera, Francesco" sort="Sera, Francesco" uniqKey="Sera F" first="Francesco" last="Sera">Francesco Sera</name>
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<author><name sortKey="Liu, Fan" sort="Liu, Fan" uniqKey="Liu F" first="Fan" last="Liu">Fan Liu</name>
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<country xml:lang="fr">Pays-Bas</country>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Melanocortin<italic>-1</italic>
receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies</title>
<author><name sortKey="Raimondi, Sara" sort="Raimondi, Sara" uniqKey="Raimondi S" first="Sara" last="Raimondi">Sara Raimondi</name>
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<affiliation wicri:level="3"><nlm:aff id="I2">Department of Occupational Health, University of Milan, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Occupational Health, University of Milan, Milan</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Gandini, Sara" sort="Gandini, Sara" uniqKey="Gandini S" first="Sara" last="Gandini">Sara Gandini</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141</wicri:regionArea>
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<author><name sortKey="Fargnoli, Maria Concetta" sort="Fargnoli, Maria Concetta" uniqKey="Fargnoli M" first="Maria Concetta" last="Fargnoli">Maria Concetta Fargnoli</name>
<affiliation wicri:level="1"><nlm:aff id="I3">Department of Dermatology, University of L’Aquila, L’Aquila, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Dermatology, University of L’Aquila, L’Aquila</wicri:regionArea>
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<author><name sortKey="Bagnardi, Vincenzo" sort="Bagnardi, Vincenzo" uniqKey="Bagnardi V" first="Vincenzo" last="Bagnardi">Vincenzo Bagnardi</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141</wicri:regionArea>
<wicri:noRegion>20141</wicri:noRegion>
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<affiliation wicri:level="3"><nlm:aff id="I4">Department of Statistics, University of Milan Bicocca, Milan, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Statistics, University of Milan Bicocca, Milan</wicri:regionArea>
<placeName><settlement type="city">Milan</settlement>
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</affiliation>
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<author><name sortKey="Maisonneuve, Patrick" sort="Maisonneuve, Patrick" uniqKey="Maisonneuve P" first="Patrick" last="Maisonneuve">Patrick Maisonneuve</name>
<affiliation wicri:level="1"><nlm:aff id="I1">Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Epidemiology and Biostatistics, European Institute of Oncology, Via Ramusio 1, Milan, 20141</wicri:regionArea>
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<author><name sortKey="Specchia, Claudia" sort="Specchia, Claudia" uniqKey="Specchia C" first="Claudia" last="Specchia">Claudia Specchia</name>
<affiliation wicri:level="1"><nlm:aff id="I5">Department of Biomedical Sciences and Biotechnologies, University of Brescia, Brescia, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Biomedical Sciences and Biotechnologies, University of Brescia, Brescia</wicri:regionArea>
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<author><name sortKey="Kumar, Rajiv" sort="Kumar, Rajiv" uniqKey="Kumar R" first="Rajiv" last="Kumar">Rajiv Kumar</name>
<affiliation wicri:level="3"><nlm:aff id="I6">Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg, Germany</nlm:aff>
<country xml:lang="fr">Allemagne</country>
<wicri:regionArea>Division of Molecular Genetic Epidemiology, German Cancer Research Center, Heidelberg</wicri:regionArea>
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<author><name sortKey="Nagore, Eduardo" sort="Nagore, Eduardo" uniqKey="Nagore E" first="Eduardo" last="Nagore">Eduardo Nagore</name>
<affiliation wicri:level="1"><nlm:aff id="I7">Department of Dermatology, Instituto Valenciano de Oncologia, Valencia, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Dermatology, Instituto Valenciano de Oncologia, Valencia</wicri:regionArea>
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<author><name sortKey="Han, Jiali" sort="Han, Jiali" uniqKey="Han J" first="Jiali" last="Han">Jiali Han</name>
<affiliation wicri:level="2"><nlm:aff id="I8">Department of Dermatology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Dermatology, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
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<affiliation wicri:level="2"><nlm:aff id="I9">Channing Laboratory, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Channing Laboratory, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, Boston, MA</wicri:regionArea>
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<affiliation wicri:level="2"><nlm:aff id="I10">Department of Epidemiology, Harvard School of Public Health, Boston, MA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Department of Epidemiology, Harvard School of Public Health, Boston, MA</wicri:regionArea>
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<author><name sortKey="Hansson, Johan" sort="Hansson, Johan" uniqKey="Hansson J" first="Johan" last="Hansson">Johan Hansson</name>
<affiliation wicri:level="3"><nlm:aff id="I11">Department of Oncology and Pathology, Cancer Center, Karolinska Institutet, Stockholm, Sweden</nlm:aff>
<country xml:lang="fr">Suède</country>
<wicri:regionArea>Department of Oncology and Pathology, Cancer Center, Karolinska Institutet, Stockholm</wicri:regionArea>
<placeName><settlement type="city">Stockholm</settlement>
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</placeName>
</affiliation>
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<author><name sortKey="Kanetsky, Peter A" sort="Kanetsky, Peter A" uniqKey="Kanetsky P" first="Peter A" last="Kanetsky">Peter A. Kanetsky</name>
<affiliation wicri:level="2"><nlm:aff id="I12">Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA</wicri:regionArea>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
</affiliation>
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<author><name sortKey="Ghiorzo, Paola" sort="Ghiorzo, Paola" uniqKey="Ghiorzo P" first="Paola" last="Ghiorzo">Paola Ghiorzo</name>
<affiliation wicri:level="1"><nlm:aff id="I13">Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Internal Medicine and Medical Specialties, University of Genoa, Genoa</wicri:regionArea>
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<author><name sortKey="Gruis, Nelleke A" sort="Gruis, Nelleke A" uniqKey="Gruis N" first="Nelleke A" last="Gruis">Nelleke A. Gruis</name>
<affiliation wicri:level="3"><nlm:aff id="I14">Department of Dermatology, Leiden University Medical Center, Leiden, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Dermatology, Leiden University Medical Center, Leiden</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
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</affiliation>
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<author><name sortKey="Dwyer, Terry" sort="Dwyer, Terry" uniqKey="Dwyer T" first="Terry" last="Dwyer">Terry Dwyer</name>
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<country xml:lang="fr">Australie</country>
<wicri:regionArea>Murdoch Childrens Research Institute, Royal Children’s Hospital, Victoria</wicri:regionArea>
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<author><name sortKey="Blizzard, Leigh" sort="Blizzard, Leigh" uniqKey="Blizzard L" first="Leigh" last="Blizzard">Leigh Blizzard</name>
<affiliation wicri:level="1"><nlm:aff id="I16">Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia</nlm:aff>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Menzies Research Institute Tasmania, University of Tasmania, Hobart</wicri:regionArea>
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<author><name sortKey="Fernandez De Misa, Ricardo" sort="Fernandez De Misa, Ricardo" uniqKey="Fernandez De Misa R" first="Ricardo" last="Fernandez-De-Misa">Ricardo Fernandez-De-Misa</name>
<affiliation wicri:level="1"><nlm:aff id="I17">Servicio de Dermatologia, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Servicio de Dermatologia, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife</wicri:regionArea>
<wicri:noRegion>Santa Cruz de Tenerife</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Branicki, Wojciech" sort="Branicki, Wojciech" uniqKey="Branicki W" first="Wojciech" last="Branicki">Wojciech Branicki</name>
<affiliation><nlm:aff id="I18">Institute of Forensic Research, Krakow, Polandfv</nlm:aff>
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</author>
<author><name sortKey="Debniak, Tadeusz" sort="Debniak, Tadeusz" uniqKey="Debniak T" first="Tadeusz" last="Debniak">Tadeusz Debniak</name>
<affiliation wicri:level="1"><nlm:aff id="I19">Department of Genetic and Pathology, Pomeranian Medical University, Polabska, Poland</nlm:aff>
<country xml:lang="fr">Pologne</country>
<wicri:regionArea>Department of Genetic and Pathology, Pomeranian Medical University, Polabska</wicri:regionArea>
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<author><name sortKey="Morling, Niels" sort="Morling, Niels" uniqKey="Morling N" first="Niels" last="Morling">Niels Morling</name>
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<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Forensic Medicine, University of Copenhagen, Copenhagen</wicri:regionArea>
<placeName><settlement type="city">Copenhague</settlement>
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<author><name sortKey="Landi, Maria Teresa" sort="Landi, Maria Teresa" uniqKey="Landi M" first="Maria Teresa" last="Landi">Maria Teresa Landi</name>
<affiliation wicri:level="2"><nlm:aff id="I21">Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD</wicri:regionArea>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
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<author><name sortKey="Palmieri, Giuseppe" sort="Palmieri, Giuseppe" uniqKey="Palmieri G" first="Giuseppe" last="Palmieri">Giuseppe Palmieri</name>
<affiliation wicri:level="1"><nlm:aff id="I22">Unit of Cancer Genetics, Istituto di Chimica Biomolecolare, CNR, Sassari, Italy</nlm:aff>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Unit of Cancer Genetics, Istituto di Chimica Biomolecolare, CNR, Sassari</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Ribas, Gloria" sort="Ribas, Gloria" uniqKey="Ribas G" first="Gloria" last="Ribas">Gloria Ribas</name>
<affiliation wicri:level="1"><nlm:aff id="I23">Dptd. Oncologia medica y hematologia, Fundacion Investigation Hospital Clinico Universitario de Valencia- INCLIVA, Valencia, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Dptd. Oncologia medica y hematologia, Fundacion Investigation Hospital Clinico Universitario de Valencia- INCLIVA, Valencia</wicri:regionArea>
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</author>
<author><name sortKey="Stratigos, Alexander" sort="Stratigos, Alexander" uniqKey="Stratigos A" first="Alexander" last="Stratigos">Alexander Stratigos</name>
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<country xml:lang="fr">Grèce</country>
<wicri:regionArea>Department of Dermatology, University of Athens, Andreas Sygros Hospital, Athens</wicri:regionArea>
<placeName><settlement type="city">Athènes</settlement>
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</affiliation>
</author>
<author><name sortKey="Cornelius, Lynn" sort="Cornelius, Lynn" uniqKey="Cornelius L" first="Lynn" last="Cornelius">Lynn Cornelius</name>
<affiliation wicri:level="2"><nlm:aff id="I25">Division of Dermatology, Washington University, St. Louis, MO, USA</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Division of Dermatology, Washington University, St. Louis, MO</wicri:regionArea>
<placeName><region type="state">Missouri (État)</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Motokawa, Tomonori" sort="Motokawa, Tomonori" uniqKey="Motokawa T" first="Tomonori" last="Motokawa">Tomonori Motokawa</name>
<affiliation wicri:level="1"><nlm:aff id="I26">Dermatological R&D Skin Research Department, POLA Chemical Industries, Yokohama, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Dermatological R&D Skin Research Department, POLA Chemical Industries, Yokohama</wicri:regionArea>
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</affiliation>
</author>
<author><name sortKey="Anno, Sumiko" sort="Anno, Sumiko" uniqKey="Anno S" first="Sumiko" last="Anno">Sumiko Anno</name>
<affiliation wicri:level="3"><nlm:aff id="I27">Shibaura Institute of Technology, Tokyo, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Shibaura Institute of Technology, Tokyo</wicri:regionArea>
<placeName><settlement type="city">Tokyo</settlement>
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</affiliation>
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<author><name sortKey="Helsing, Per" sort="Helsing, Per" uniqKey="Helsing P" first="Per" last="Helsing">Per Helsing</name>
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<country xml:lang="fr">Norvège</country>
<wicri:regionArea>Department of Dermatology, Oslo University Hospital, Oslo</wicri:regionArea>
<placeName><settlement type="city">Oslo</settlement>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Wong, Terence H" sort="Wong, Terence H" uniqKey="Wong T" first="Terence H" last="Wong">Terence H. Wong</name>
<affiliation wicri:level="4"><nlm:aff id="I29">Department of Dermatology, University of Edinburgh, Edinburgh, UK</nlm:aff>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Dermatology, University of Edinburgh, Edinburgh</wicri:regionArea>
<placeName><settlement type="city">Édimbourg</settlement>
<region type="country">Écosse</region>
<settlement type="city">Édimbourg</settlement>
</placeName>
<orgName type="university">Université d'Édimbourg</orgName>
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<author><name sortKey="Autier, Philippe" sort="Autier, Philippe" uniqKey="Autier P" first="Philippe" last="Autier">Philippe Autier</name>
<affiliation wicri:level="3"><nlm:aff id="I30">International Prevention Research Institute, Lyon, France</nlm:aff>
<country xml:lang="fr">France</country>
<wicri:regionArea>International Prevention Research Institute, Lyon</wicri:regionArea>
<placeName><region type="region">Auvergne-Rhône-Alpes</region>
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</affiliation>
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<author><name sortKey="Garcia Borr N, Jose C" sort="Garcia Borr N, Jose C" uniqKey="Garcia Borr N J" first="José C" last="García-Borr N">José C. García-Borr N</name>
<affiliation wicri:level="1"><nlm:aff id="I31">Department of Biochemistry and Molecular Biology, University of Murcia, Murcia, Spain</nlm:aff>
<country xml:lang="fr">Espagne</country>
<wicri:regionArea>Department of Biochemistry and Molecular Biology, University of Murcia, Murcia</wicri:regionArea>
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<author><name sortKey="Little, Julian" sort="Little, Julian" uniqKey="Little J" first="Julian" last="Little">Julian Little</name>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Epidemiology and Community Medicine, University of Ottawa, Ottawa</wicri:regionArea>
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<author><name sortKey="Newton Bishop, Julia" sort="Newton Bishop, Julia" uniqKey="Newton Bishop J" first="Julia" last="Newton-Bishop">Julia Newton-Bishop</name>
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<country xml:lang="fr">Royaume-Uni</country>
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<author><name sortKey="Sera, Francesco" sort="Sera, Francesco" uniqKey="Sera F" first="Francesco" last="Sera">Francesco Sera</name>
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<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>UCL Institute of Child Health, London</wicri:regionArea>
<placeName><settlement type="city">Londres</settlement>
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</affiliation>
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<author><name sortKey="Liu, Fan" sort="Liu, Fan" uniqKey="Liu F" first="Fan" last="Liu">Fan Liu</name>
<affiliation wicri:level="3"><nlm:aff id="I35">Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
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</affiliation>
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<author><name sortKey="Kayser, Manfred" sort="Kayser, Manfred" uniqKey="Kayser M" first="Manfred" last="Kayser">Manfred Kayser</name>
<affiliation wicri:level="3"><nlm:aff id="I35">Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam, The Netherlands</nlm:aff>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Forensic Molecular Biology, Erasmus MC University Medical Center, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
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<author><name sortKey="Nijsten, Tamar" sort="Nijsten, Tamar" uniqKey="Nijsten T" first="Tamar" last="Nijsten">Tamar Nijsten</name>
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<wicri:regionArea>Department of Dermatology, Erasmus MC University Medical Center, Rotterdam</wicri:regionArea>
<placeName><settlement type="city">Rotterdam</settlement>
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<series><title level="j">BMC Medical Research Methodology</title>
<idno type="eISSN">1471-2288</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
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<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia.</p>
</sec>
<sec><title>Design and methods</title>
<p>Based on our experience with the study design of the Melanocortin-1 receptor (<italic>MC1R</italic>
) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of <italic>MC1R</italic>
variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling.</p>
</sec>
<sec><title>Discussion</title>
<p>Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.</p>
</sec>
</div>
</front>
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