Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
Identifieur interne : 001199 ( Pmc/Corpus ); précédent : 001198; suivant : 001200Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
Auteurs : Weihong Tang ; Christine Schwienbacher ; Lorna M. Lopez ; Yoav Ben-Shlomo ; Tiphaine Oudot-Mellakh ; Andrew D. Johnson ; Nilesh J. Samani ; Saonli Basu ; Martin Gögele ; Gail Davies ; Gordon D. O. Lowe ; David-Alexandre Tregouet ; Adrian Tan ; James S. Pankow ; Albert Tenesa ; Daniel Levy ; Claudia B. Volpato ; Ann Rumley ; Alan J. Gow ; Cosetta Minelli ; John W. G. Yarnell ; David J. Porteous ; John M. Starr ; John Gallacher ; Eric Boerwinkle ; Peter M. Visscher ; Peter P. Pramstaller ; Mary Cushman ; Valur Emilsson ; Andrew S. Plump ; Nena Matijevic ; Pierre-Emmanuel Morange ; Ian J. Deary ; Andrew A. Hicks ; Aaron R. FolsomSource :
- American Journal of Human Genetics [ 0002-9297 ] ; 2012.
Abstract
Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with
Url:
DOI: 10.1016/j.ajhg.2012.05.009
PubMed: 22703881
PubMed Central: 3397273
Links to Exploration step
PMC:3397273Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease</title><author><name sortKey="Tang, Weihong" sort="Tang, Weihong" uniqKey="Tang W" first="Weihong" last="Tang">Weihong Tang</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Schwienbacher, Christine" sort="Schwienbacher, Christine" uniqKey="Schwienbacher C" first="Christine" last="Schwienbacher">Christine Schwienbacher</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy</nlm:aff></affiliation></author><author><name sortKey="Lopez, Lorna M" sort="Lopez, Lorna M" uniqKey="Lopez L" first="Lorna M." last="Lopez">Lorna M. Lopez</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Ben Shlomo, Yoav" sort="Ben Shlomo, Yoav" uniqKey="Ben Shlomo Y" first="Yoav" last="Ben-Shlomo">Yoav Ben-Shlomo</name><affiliation><nlm:aff id="aff6">School of Social and Community Medicine, University of Bristol, Bristol BS8 2PS, UK</nlm:aff></affiliation></author><author><name sortKey="Oudot Mellakh, Tiphaine" sort="Oudot Mellakh, Tiphaine" uniqKey="Oudot Mellakh T" first="Tiphaine" last="Oudot-Mellakh">Tiphaine Oudot-Mellakh</name><affiliation><nlm:aff id="aff7">INSERM UMR_S 937; Institute of Cardiometabolism and Nutrition (ICAN); Université Pierre et Marie Curie (UPMC, Paris 6); 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Johnson, Andrew D" sort="Johnson, Andrew D" uniqKey="Johnson A" first="Andrew D." last="Johnson">Andrew D. Johnson</name><affiliation><nlm:aff id="aff8">National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA 01702, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Center for Population Studies, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation></author><author><name sortKey="Samani, Nilesh J" sort="Samani, Nilesh J" uniqKey="Samani N" first="Nilesh J." last="Samani">Nilesh J. Samani</name><affiliation><nlm:aff id="aff11">Department of Cardiovascular Sciences, University of Leicester, Clinical Sciences Wing, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">National Institute for Health Research Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Basu, Saonli" sort="Basu, Saonli" uniqKey="Basu S" first="Saonli" last="Basu">Saonli Basu</name><affiliation><nlm:aff id="aff13">Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA</nlm:aff></affiliation></author><author><name sortKey="Gogele, Martin" sort="Gogele, Martin" uniqKey="Gogele M" first="Martin" last="Gögele">Martin Gögele</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Davies, Gail" sort="Davies, Gail" uniqKey="Davies G" first="Gail" last="Davies">Gail Davies</name><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Lowe, Gordon D O" sort="Lowe, Gordon D O" uniqKey="Lowe G" first="Gordon D. O." last="Lowe">Gordon D. O. Lowe</name><affiliation><nlm:aff id="aff14">Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David-Alexandre" last="Tregouet">David-Alexandre Tregouet</name><affiliation><nlm:aff id="aff7">INSERM UMR_S 937; Institute of Cardiometabolism and Nutrition (ICAN); Université Pierre et Marie Curie (UPMC, Paris 6); 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tan, Adrian" sort="Tan, Adrian" uniqKey="Tan A" first="Adrian" last="Tan">Adrian Tan</name><affiliation><nlm:aff id="aff13">Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA</nlm:aff></affiliation></author><author><name sortKey="Pankow, James S" sort="Pankow, James S" uniqKey="Pankow J" first="James S." last="Pankow">James S. Pankow</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Tenesa, Albert" sort="Tenesa, Albert" uniqKey="Tenesa A" first="Albert" last="Tenesa">Albert Tenesa</name><affiliation><nlm:aff id="aff15">Institute of Genetics and Molecular Medicine, Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">The Roslin Institute, Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK</nlm:aff></affiliation></author><author><name sortKey="Levy, Daniel" sort="Levy, Daniel" uniqKey="Levy D" first="Daniel" last="Levy">Daniel Levy</name><affiliation><nlm:aff id="aff9">Center for Population Studies, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation></author><author><name sortKey="Volpato, Claudia B" sort="Volpato, Claudia B" uniqKey="Volpato C" first="Claudia B." last="Volpato">Claudia B. Volpato</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Rumley, Ann" sort="Rumley, Ann" uniqKey="Rumley A" first="Ann" last="Rumley">Ann Rumley</name><affiliation><nlm:aff id="aff14">Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK</nlm:aff></affiliation></author><author><name sortKey="Gow, Alan J" sort="Gow, Alan J" uniqKey="Gow A" first="Alan J." last="Gow">Alan J. Gow</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Minelli, Cosetta" sort="Minelli, Cosetta" uniqKey="Minelli C" first="Cosetta" last="Minelli">Cosetta Minelli</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Yarnell, John W G" sort="Yarnell, John W G" uniqKey="Yarnell J" first="John W. G." last="Yarnell">John W. G. Yarnell</name><affiliation><nlm:aff id="aff17">Epidemiology Research Group, Queen's University Belfast, Grosvenor Road, Belfast BT12 6BJ, UK</nlm:aff></affiliation></author><author><name sortKey="Porteous, David J" sort="Porteous, David J" uniqKey="Porteous D" first="David J." last="Porteous">David J. Porteous</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Medical Genetics Section, University of Edinburgh, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Starr, John M" sort="Starr, John M" uniqKey="Starr J" first="John M." last="Starr">John M. Starr</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Alzheimer Scotland Dementia Research Centre, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Gallacher, John" sort="Gallacher, John" uniqKey="Gallacher J" first="John" last="Gallacher">John Gallacher</name><affiliation><nlm:aff id="aff20">Department of Primary Care and Public Health, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK</nlm:aff></affiliation></author><author><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name><affiliation><nlm:aff id="aff21">Human Genetics Center and Human Genome Sequencing Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Visscher, Peter M" sort="Visscher, Peter M" uniqKey="Visscher P" first="Peter M." last="Visscher">Peter M. Visscher</name><affiliation><nlm:aff id="aff22">Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Department of Neurology, General Central Hospital, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Neurology, University of Lübeck, 23538 Lübeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Cushman, Mary" sort="Cushman, Mary" uniqKey="Cushman M" first="Mary" last="Cushman">Mary Cushman</name><affiliation><nlm:aff id="aff25">Departments of Medicine and Pathology, University of Vermont, Burlington, VT 05405, USA</nlm:aff></affiliation></author><author><name sortKey="Emilsson, Valur" sort="Emilsson, Valur" uniqKey="Emilsson V" first="Valur" last="Emilsson">Valur Emilsson</name><affiliation><nlm:aff id="aff26">Molecular Programming and Research Informatics, Merck & Co., Inc., Rahway, NJ 07065, USA</nlm:aff></affiliation></author><author><name sortKey="Plump, Andrew S" sort="Plump, Andrew S" uniqKey="Plump A" first="Andrew S." last="Plump">Andrew S. Plump</name><affiliation><nlm:aff id="aff27">Department of Cardiovascular Disease, Merck Research Laboratory, Rahway, NJ 07065, USA</nlm:aff></affiliation></author><author><name sortKey="Matijevic, Nena" sort="Matijevic, Nena" uniqKey="Matijevic N" first="Nena" last="Matijevic">Nena Matijevic</name><affiliation><nlm:aff id="aff28">Hemostasis Laboratory, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Morange, Pierre Emmanuel" sort="Morange, Pierre Emmanuel" uniqKey="Morange P" first="Pierre-Emmanuel" last="Morange">Pierre-Emmanuel Morange</name><affiliation><nlm:aff id="aff29">INSERM, UMR_S 1062, Aix-Marseille Université, 13385 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A." last="Hicks">Andrew A. Hicks</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Folsom, Aaron R" sort="Folsom, Aaron R" uniqKey="Folsom A" first="Aaron R." last="Folsom">Aaron R. Folsom</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22703881</idno><idno type="pmc">3397273</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3397273</idno><idno type="RBID">PMC:3397273</idno><idno type="doi">10.1016/j.ajhg.2012.05.009</idno><date when="2012">2012</date><idno type="wicri:Area/Pmc/Corpus">001199</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001199</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease</title><author><name sortKey="Tang, Weihong" sort="Tang, Weihong" uniqKey="Tang W" first="Weihong" last="Tang">Weihong Tang</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Schwienbacher, Christine" sort="Schwienbacher, Christine" uniqKey="Schwienbacher C" first="Christine" last="Schwienbacher">Christine Schwienbacher</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy</nlm:aff></affiliation></author><author><name sortKey="Lopez, Lorna M" sort="Lopez, Lorna M" uniqKey="Lopez L" first="Lorna M." last="Lopez">Lorna M. Lopez</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Ben Shlomo, Yoav" sort="Ben Shlomo, Yoav" uniqKey="Ben Shlomo Y" first="Yoav" last="Ben-Shlomo">Yoav Ben-Shlomo</name><affiliation><nlm:aff id="aff6">School of Social and Community Medicine, University of Bristol, Bristol BS8 2PS, UK</nlm:aff></affiliation></author><author><name sortKey="Oudot Mellakh, Tiphaine" sort="Oudot Mellakh, Tiphaine" uniqKey="Oudot Mellakh T" first="Tiphaine" last="Oudot-Mellakh">Tiphaine Oudot-Mellakh</name><affiliation><nlm:aff id="aff7">INSERM UMR_S 937; Institute of Cardiometabolism and Nutrition (ICAN); Université Pierre et Marie Curie (UPMC, Paris 6); 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Johnson, Andrew D" sort="Johnson, Andrew D" uniqKey="Johnson A" first="Andrew D." last="Johnson">Andrew D. Johnson</name><affiliation><nlm:aff id="aff8">National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA 01702, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">Center for Population Studies, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation></author><author><name sortKey="Samani, Nilesh J" sort="Samani, Nilesh J" uniqKey="Samani N" first="Nilesh J." last="Samani">Nilesh J. Samani</name><affiliation><nlm:aff id="aff11">Department of Cardiovascular Sciences, University of Leicester, Clinical Sciences Wing, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">National Institute for Health Research Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Basu, Saonli" sort="Basu, Saonli" uniqKey="Basu S" first="Saonli" last="Basu">Saonli Basu</name><affiliation><nlm:aff id="aff13">Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA</nlm:aff></affiliation></author><author><name sortKey="Gogele, Martin" sort="Gogele, Martin" uniqKey="Gogele M" first="Martin" last="Gögele">Martin Gögele</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Davies, Gail" sort="Davies, Gail" uniqKey="Davies G" first="Gail" last="Davies">Gail Davies</name><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Lowe, Gordon D O" sort="Lowe, Gordon D O" uniqKey="Lowe G" first="Gordon D. O." last="Lowe">Gordon D. O. Lowe</name><affiliation><nlm:aff id="aff14">Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David-Alexandre" last="Tregouet">David-Alexandre Tregouet</name><affiliation><nlm:aff id="aff7">INSERM UMR_S 937; Institute of Cardiometabolism and Nutrition (ICAN); Université Pierre et Marie Curie (UPMC, Paris 6); 75013 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Tan, Adrian" sort="Tan, Adrian" uniqKey="Tan A" first="Adrian" last="Tan">Adrian Tan</name><affiliation><nlm:aff id="aff13">Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA</nlm:aff></affiliation></author><author><name sortKey="Pankow, James S" sort="Pankow, James S" uniqKey="Pankow J" first="James S." last="Pankow">James S. Pankow</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author><author><name sortKey="Tenesa, Albert" sort="Tenesa, Albert" uniqKey="Tenesa A" first="Albert" last="Tenesa">Albert Tenesa</name><affiliation><nlm:aff id="aff15">Institute of Genetics and Molecular Medicine, Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff16">The Roslin Institute, Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK</nlm:aff></affiliation></author><author><name sortKey="Levy, Daniel" sort="Levy, Daniel" uniqKey="Levy D" first="Daniel" last="Levy">Daniel Levy</name><affiliation><nlm:aff id="aff9">Center for Population Studies, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</nlm:aff></affiliation></author><author><name sortKey="Volpato, Claudia B" sort="Volpato, Claudia B" uniqKey="Volpato C" first="Claudia B." last="Volpato">Claudia B. Volpato</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Rumley, Ann" sort="Rumley, Ann" uniqKey="Rumley A" first="Ann" last="Rumley">Ann Rumley</name><affiliation><nlm:aff id="aff14">Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK</nlm:aff></affiliation></author><author><name sortKey="Gow, Alan J" sort="Gow, Alan J" uniqKey="Gow A" first="Alan J." last="Gow">Alan J. Gow</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Minelli, Cosetta" sort="Minelli, Cosetta" uniqKey="Minelli C" first="Cosetta" last="Minelli">Cosetta Minelli</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Yarnell, John W G" sort="Yarnell, John W G" uniqKey="Yarnell J" first="John W. G." last="Yarnell">John W. G. Yarnell</name><affiliation><nlm:aff id="aff17">Epidemiology Research Group, Queen's University Belfast, Grosvenor Road, Belfast BT12 6BJ, UK</nlm:aff></affiliation></author><author><name sortKey="Porteous, David J" sort="Porteous, David J" uniqKey="Porteous D" first="David J." last="Porteous">David J. Porteous</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff18">Medical Genetics Section, University of Edinburgh, Edinburgh EH4 2XU, UK</nlm:aff></affiliation></author><author><name sortKey="Starr, John M" sort="Starr, John M" uniqKey="Starr J" first="John M." last="Starr">John M. Starr</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff19">Alzheimer Scotland Dementia Research Centre, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Gallacher, John" sort="Gallacher, John" uniqKey="Gallacher J" first="John" last="Gallacher">John Gallacher</name><affiliation><nlm:aff id="aff20">Department of Primary Care and Public Health, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK</nlm:aff></affiliation></author><author><name sortKey="Boerwinkle, Eric" sort="Boerwinkle, Eric" uniqKey="Boerwinkle E" first="Eric" last="Boerwinkle">Eric Boerwinkle</name><affiliation><nlm:aff id="aff21">Human Genetics Center and Human Genome Sequencing Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Visscher, Peter M" sort="Visscher, Peter M" uniqKey="Visscher P" first="Peter M." last="Visscher">Peter M. Visscher</name><affiliation><nlm:aff id="aff22">Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane 4029, Australia</nlm:aff></affiliation></author><author><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff23">Department of Neurology, General Central Hospital, 39100 Bolzano, Italy</nlm:aff></affiliation><affiliation><nlm:aff id="aff24">Department of Neurology, University of Lübeck, 23538 Lübeck, Germany</nlm:aff></affiliation></author><author><name sortKey="Cushman, Mary" sort="Cushman, Mary" uniqKey="Cushman M" first="Mary" last="Cushman">Mary Cushman</name><affiliation><nlm:aff id="aff25">Departments of Medicine and Pathology, University of Vermont, Burlington, VT 05405, USA</nlm:aff></affiliation></author><author><name sortKey="Emilsson, Valur" sort="Emilsson, Valur" uniqKey="Emilsson V" first="Valur" last="Emilsson">Valur Emilsson</name><affiliation><nlm:aff id="aff26">Molecular Programming and Research Informatics, Merck & Co., Inc., Rahway, NJ 07065, USA</nlm:aff></affiliation></author><author><name sortKey="Plump, Andrew S" sort="Plump, Andrew S" uniqKey="Plump A" first="Andrew S." last="Plump">Andrew S. Plump</name><affiliation><nlm:aff id="aff27">Department of Cardiovascular Disease, Merck Research Laboratory, Rahway, NJ 07065, USA</nlm:aff></affiliation></author><author><name sortKey="Matijevic, Nena" sort="Matijevic, Nena" uniqKey="Matijevic N" first="Nena" last="Matijevic">Nena Matijevic</name><affiliation><nlm:aff id="aff28">Hemostasis Laboratory, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</nlm:aff></affiliation></author><author><name sortKey="Morange, Pierre Emmanuel" sort="Morange, Pierre Emmanuel" uniqKey="Morange P" first="Pierre-Emmanuel" last="Morange">Pierre-Emmanuel Morange</name><affiliation><nlm:aff id="aff29">INSERM, UMR_S 1062, Aix-Marseille Université, 13385 Marseille, France</nlm:aff></affiliation></author><author><name sortKey="Deary, Ian J" sort="Deary, Ian J" uniqKey="Deary I" first="Ian J." last="Deary">Ian J. Deary</name><affiliation><nlm:aff id="aff4">Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff5">Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</nlm:aff></affiliation></author><author><name sortKey="Hicks, Andrew A" sort="Hicks, Andrew A" uniqKey="Hicks A" first="Andrew A." last="Hicks">Andrew A. Hicks</name><affiliation><nlm:aff id="aff2">Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</nlm:aff></affiliation></author><author><name sortKey="Folsom, Aaron R" sort="Folsom, Aaron R" uniqKey="Folsom A" first="Aaron R." last="Folsom">Aaron R. Folsom</name><affiliation><nlm:aff id="aff1">Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2012">2012</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with <italic>KNG1</italic>, <italic>HRG</italic>, <italic>F11</italic>, <italic>F12</italic>, and <italic>ABO</italic> were confirmed. A second independent association in <italic>ABO</italic> was identified and replicated (rs8176704, p = 4.26 × 10<sup>−24</sup>). Pooling the ARIC and replication data yielded two additional loci in <italic>F5</italic> (rs6028, p = 3.22 × 10<sup>−9</sup>) and <italic>AGBL1</italic> (rs2469184, p = 3.61 × 10<sup>−8</sup>). For PT, significant associations were identified and confirmed in <italic>F7</italic> (rs561241, p = 3.71 × 10<sup>−56</sup>) and <italic>PROCR/EDEM2</italic> (rs2295888, p = 5.25 × 10<sup>−13</sup>). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.</p></div></front></TEI><pmc article-type="brief-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22703881</article-id><article-id pub-id-type="pmc">3397273</article-id><article-id pub-id-type="publisher-id">AJHG1165</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2012.05.009</article-id><article-categories><subj-group subj-group-type="heading"><subject>Report</subject></subj-group></article-categories><title-group><article-title>Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Tang</surname><given-names>Weihong</given-names></name><email>tang0097@umn.edu</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">30</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib><contrib contrib-type="author"><name><surname>Schwienbacher</surname><given-names>Christine</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff3" ref-type="aff">3</xref><xref rid="fn1" ref-type="fn">30</xref></contrib><contrib contrib-type="author"><name><surname>Lopez</surname><given-names>Lorna M.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn1" ref-type="fn">30</xref></contrib><contrib contrib-type="author"><name><surname>Ben-Shlomo</surname><given-names>Yoav</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Oudot-Mellakh</surname><given-names>Tiphaine</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Johnson</surname><given-names>Andrew D.</given-names></name><xref rid="aff8" ref-type="aff">8</xref><xref rid="aff9" ref-type="aff">9</xref><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Samani</surname><given-names>Nilesh J.</given-names></name><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff12" ref-type="aff">12</xref><xref rid="fn2" ref-type="fn">31</xref></contrib><contrib contrib-type="author"><name><surname>Basu</surname><given-names>Saonli</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Gögele</surname><given-names>Martin</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Davies</surname><given-names>Gail</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Lowe</surname><given-names>Gordon D.O.</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Tregouet</surname><given-names>David-Alexandre</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Tan</surname><given-names>Adrian</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Pankow</surname><given-names>James S.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Tenesa</surname><given-names>Albert</given-names></name><xref rid="aff15" ref-type="aff">15</xref><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Levy</surname><given-names>Daniel</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Volpato</surname><given-names>Claudia B.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Rumley</surname><given-names>Ann</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Gow</surname><given-names>Alan J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Minelli</surname><given-names>Cosetta</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Yarnell</surname><given-names>John W.G.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Porteous</surname><given-names>David J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Starr</surname><given-names>John M.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Gallacher</surname><given-names>John</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Boerwinkle</surname><given-names>Eric</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Visscher</surname><given-names>Peter M.</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Pramstaller</surname><given-names>Peter P.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="aff23" ref-type="aff">23</xref><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Cushman</surname><given-names>Mary</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Emilsson</surname><given-names>Valur</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Plump</surname><given-names>Andrew S.</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Matijevic</surname><given-names>Nena</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Morange</surname><given-names>Pierre-Emmanuel</given-names></name><xref rid="aff29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Deary</surname><given-names>Ian J.</given-names></name><xref rid="aff4" ref-type="aff">4</xref><xref rid="aff5" ref-type="aff">5</xref><xref rid="fn1" ref-type="fn">30</xref></contrib><contrib contrib-type="author"><name><surname>Hicks</surname><given-names>Andrew A.</given-names></name><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">30</xref></contrib><contrib contrib-type="author"><name><surname>Folsom</surname><given-names>Aaron R.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">30</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Division of Epidemiology and Community Health, University of Minnesota, Minneapolis, MN 55454, USA</aff><aff id="aff2"><label>2</label>Center for Biomedicine, European Academy of Bozen/Bolzano (EURAC); affiliated institute of the University of Lübeck, Lübeck, Germany), Viale Druso 1, 39100 Bolzano, Italy</aff><aff id="aff3"><label>3</label>Department of Experimental and Diagnostic Medicine, University of Ferrara, 44121 Ferrara, Italy</aff><aff id="aff4"><label>4</label>Centre for Cognitive Ageing and Cognitive Epidemiology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</aff><aff id="aff5"><label>5</label>Department of Psychology, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</aff><aff id="aff6"><label>6</label>School of Social and Community Medicine, University of Bristol, Bristol BS8 2PS, UK</aff><aff id="aff7"><label>7</label>INSERM UMR_S 937; Institute of Cardiometabolism and Nutrition (ICAN); Université Pierre et Marie Curie (UPMC, Paris 6); 75013 Paris, France</aff><aff id="aff8"><label>8</label>National Heart, Lung, and Blood Institute's Framingham Heart Study, Framingham, MA 01702, USA</aff><aff id="aff9"><label>9</label>Center for Population Studies, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</aff><aff id="aff10"><label>10</label>Division of Intramural Research, National Heart, Lung and Blood Institute, Bethesda, MD 20824, USA</aff><aff id="aff11"><label>11</label>Department of Cardiovascular Sciences, University of Leicester, Clinical Sciences Wing, Glenfield Hospital, Leicester LE3 9QP, UK</aff><aff id="aff12"><label>12</label>National Institute for Health Research Leicester Cardiovascular Biomedical Research Unit, Glenfield Hospital, Leicester LE3 9QP, UK</aff><aff id="aff13"><label>13</label>Division of Biostatistics, University of Minnesota, Minneapolis, MN 55455, USA</aff><aff id="aff14"><label>14</label>Institute of Cardiovascular and Medical Sciences, University of Glasgow, Glasgow G12 8TA, UK</aff><aff id="aff15"><label>15</label>Institute of Genetics and Molecular Medicine, Medical Research Council (MRC) Human Genetics Unit, Edinburgh EH4 2XU, UK</aff><aff id="aff16"><label>16</label>The Roslin Institute, Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK</aff><aff id="aff17"><label>17</label>Epidemiology Research Group, Queen's University Belfast, Grosvenor Road, Belfast BT12 6BJ, UK</aff><aff id="aff18"><label>18</label>Medical Genetics Section, University of Edinburgh, Edinburgh EH4 2XU, UK</aff><aff id="aff19"><label>19</label>Alzheimer Scotland Dementia Research Centre, University of Edinburgh, 7 George Square, Edinburgh EH8 9JZ, UK</aff><aff id="aff20"><label>20</label>Department of Primary Care and Public Health, School of Medicine, Cardiff University, Cardiff CF14 4XN, UK</aff><aff id="aff21"><label>21</label>Human Genetics Center and Human Genome Sequencing Center, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</aff><aff id="aff22"><label>22</label>Queensland Statistical Genetics, Queensland Institute of Medical Research, Brisbane 4029, Australia</aff><aff id="aff23"><label>23</label>Department of Neurology, General Central Hospital, 39100 Bolzano, Italy</aff><aff id="aff24"><label>24</label>Department of Neurology, University of Lübeck, 23538 Lübeck, Germany</aff><aff id="aff25"><label>25</label>Departments of Medicine and Pathology, University of Vermont, Burlington, VT 05405, USA</aff><aff id="aff26"><label>26</label>Molecular Programming and Research Informatics, Merck & Co., Inc., Rahway, NJ 07065, USA</aff><aff id="aff27"><label>27</label>Department of Cardiovascular Disease, Merck Research Laboratory, Rahway, NJ 07065, USA</aff><aff id="aff28"><label>28</label>Hemostasis Laboratory, University of Texas Health Science Center at Houston, Houston, TX 77030, USA</aff><aff id="aff29"><label>29</label>INSERM, UMR_S 1062, Aix-Marseille Université, 13385 Marseille, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>tang0097@umn.edu</email></corresp><fn id="fn1"><label>30</label><p>These authors contributed equally to this work</p></fn><fn id="fn2"><label>31</label><p>On behalf of the CARDIoGRAM Consortium; a full list of CARDIoGRAM members can be found in the Supplemental Data</p></fn></author-notes><pub-date pub-type="ppub"><day>13</day><month>7</month><year>2012</year></pub-date><volume>91</volume><issue>1</issue><fpage>152</fpage><lpage>162</lpage><history><date date-type="received"><day>5</day><month>9</month><year>2011</year></date><date date-type="rev-recd"><day>10</day><month>4</month><year>2012</year></date><date date-type="accepted"><day>5</day><month>5</month><year>2012</year></date></history><permissions><copyright-statement>© 2012 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2012</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation-factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT, but no GWAS has been reported for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry from the Atherosclerosis Risk in Communities (ARIC) study, and the GWAS for PT was conducted in 2,583 participants from the Genetic Study of Three Population Microisolates in South Tyrol (MICROS) and the Lothian Birth Cohorts (LBC) of 1921 and 1936. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with <italic>KNG1</italic>, <italic>HRG</italic>, <italic>F11</italic>, <italic>F12</italic>, and <italic>ABO</italic> were confirmed. A second independent association in <italic>ABO</italic> was identified and replicated (rs8176704, p = 4.26 × 10<sup>−24</sup>). Pooling the ARIC and replication data yielded two additional loci in <italic>F5</italic> (rs6028, p = 3.22 × 10<sup>−9</sup>) and <italic>AGBL1</italic> (rs2469184, p = 3.61 × 10<sup>−8</sup>). For PT, significant associations were identified and confirmed in <italic>F7</italic> (rs561241, p = 3.71 × 10<sup>−56</sup>) and <italic>PROCR/EDEM2</italic> (rs2295888, p = 5.25 × 10<sup>−13</sup>). Assessment of existing gene expression and coronary artery disease (CAD) databases identified associations of five of the GWAS loci with altered gene expression and two with CAD. In summary, eight genetic loci that account for ∼29% of the variance in aPTT and two loci that account for ∼14% of the variance in PT were detected and supported by functional data.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Asie/explor/AustralieFrV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001199 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 001199 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Asie
|area= AustralieFrV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé= PMC:3397273
|texte= Genetic Associations for Activated Partial Thromboplastin Time and Prothrombin Time, their Gene Expression Profiles, and Risk of Coronary Artery Disease
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/RBID.i -Sk "pubmed:22703881" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd \
| NlmPubMed2Wicri -a AustralieFrV1
| This area was generated with Dilib version V0.6.33. |  |