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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages</title><author><name sortKey="Christofidou, Paraskevi" sort="Christofidou, Paraskevi" uniqKey="Christofidou P" first="Paraskevi" last="Christofidou">Paraskevi Christofidou</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Nelson, Christopher P" sort="Nelson, Christopher P" uniqKey="Nelson C" first="Christopher P." last="Nelson">Christopher P. Nelson</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Nikpay, Majid" sort="Nikpay, Majid" uniqKey="Nikpay M" first="Majid" last="Nikpay">Majid Nikpay</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Qu, Liming" sort="Qu, Liming" uniqKey="Qu L" first="Liming" last="Qu">Liming Qu</name><affiliation><nlm:aff id="aff5">Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Li, Mingyao" sort="Li, Mingyao" uniqKey="Li M" first="Mingyao" last="Li">Mingyao Li</name><affiliation><nlm:aff id="aff5">Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Loley, Christina" sort="Loley, Christina" uniqKey="Loley C" first="Christina" last="Loley">Christina Loley</name><affiliation><nlm:aff id="aff6">Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Debiec, Radoslaw" sort="Debiec, Radoslaw" uniqKey="Debiec R" first="Radoslaw" last="Debiec">Radoslaw Debiec</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Braund, Peter S" sort="Braund, Peter S" uniqKey="Braund P" first="Peter S." last="Braund">Peter S. Braund</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Denniff, Matthew" sort="Denniff, Matthew" uniqKey="Denniff M" first="Matthew" last="Denniff">Matthew Denniff</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Charchar, Fadi J" sort="Charchar, Fadi J" uniqKey="Charchar F" first="Fadi J." last="Charchar">Fadi J. Charchar</name><affiliation><nlm:aff id="aff7">Faculty of Science and Technology, School of Applied and Biomedical Sciences, Federation University Australia, Ballarat, VIC 3350, Australia</nlm:aff></affiliation></author><author><name sortKey="Arjo, Ares Rocanin" sort="Arjo, Ares Rocanin" uniqKey="Arjo A" first="Ares Rocanin" last="Arjo">Ares Rocanin Arjo</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David-Alexandre" last="Trégouët">David-Alexandre Trégouët</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Goodall, Alison H" sort="Goodall, Alison H" uniqKey="Goodall A" first="Alison H." last="Goodall">Alison H. Goodall</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Cambien, Francois" sort="Cambien, Francois" uniqKey="Cambien F" first="Francois" last="Cambien">Francois Cambien</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H." last="Ouwehand">Willem H. Ouwehand</name><affiliation><nlm:aff id="aff11">Department of Haematology, Cambridge Biomedical Campus, University of Cambridge and NHS Blood and Transplant, Cambridge CB2 0PT, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK</nlm:aff></affiliation></author><author><name sortKey="Roberts, Robert" sort="Roberts, Robert" uniqKey="Roberts R" first="Robert" last="Roberts">Robert Roberts</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Schunkert, Heribert" sort="Schunkert, Heribert" uniqKey="Schunkert H" first="Heribert" last="Schunkert">Heribert Schunkert</name><affiliation><nlm:aff id="aff13">Deutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany</nlm:aff></affiliation></author><author><name sortKey="Hengstenberg, Christian" sort="Hengstenberg, Christian" uniqKey="Hengstenberg C" first="Christian" last="Hengstenberg">Christian Hengstenberg</name><affiliation><nlm:aff id="aff13">Deutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany</nlm:aff></affiliation></author><author><name sortKey="Reilly, Muredach P" sort="Reilly, Muredach P" uniqKey="Reilly M" first="Muredach P." last="Reilly">Muredach P. Reilly</name><affiliation><nlm:aff id="aff15">Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19148, USA</nlm:aff></affiliation></author><author><name sortKey="Erdmann, Jeanette" sort="Erdmann, Jeanette" uniqKey="Erdmann J" first="Jeanette" last="Erdmann">Jeanette Erdmann</name><affiliation><nlm:aff id="aff16">Institute for Integrative and Experimental Genomics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Mcpherson, Ruth" sort="Mcpherson, Ruth" uniqKey="Mcpherson R" first="Ruth" last="Mcpherson">Ruth Mcpherson</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Konig, Inke R" sort="Konig, Inke R" uniqKey="Konig I" first="Inke R." last="König">Inke R. König</name><affiliation><nlm:aff id="aff6">Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Thompson, John R" sort="Thompson, John R" uniqKey="Thompson J" first="John R." last="Thompson">John R. Thompson</name><affiliation><nlm:aff id="aff17">Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK</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="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Tomaszewski, Maciej" sort="Tomaszewski, Maciej" uniqKey="Tomaszewski M" first="Maciej" last="Tomaszewski">Maciej Tomaszewski</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26166477</idno><idno type="pmc">4573243</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573243</idno><idno type="RBID">PMC:4573243</idno><idno type="doi">10.1016/j.ajhg.2015.06.001</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001690</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001690</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages</title><author><name sortKey="Christofidou, Paraskevi" sort="Christofidou, Paraskevi" uniqKey="Christofidou P" first="Paraskevi" last="Christofidou">Paraskevi Christofidou</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Nelson, Christopher P" sort="Nelson, Christopher P" uniqKey="Nelson C" first="Christopher P." last="Nelson">Christopher P. Nelson</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Nikpay, Majid" sort="Nikpay, Majid" uniqKey="Nikpay M" first="Majid" last="Nikpay">Majid Nikpay</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Qu, Liming" sort="Qu, Liming" uniqKey="Qu L" first="Liming" last="Qu">Liming Qu</name><affiliation><nlm:aff id="aff5">Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Li, Mingyao" sort="Li, Mingyao" uniqKey="Li M" first="Mingyao" last="Li">Mingyao Li</name><affiliation><nlm:aff id="aff5">Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA</nlm:aff></affiliation></author><author><name sortKey="Loley, Christina" sort="Loley, Christina" uniqKey="Loley C" first="Christina" last="Loley">Christina Loley</name><affiliation><nlm:aff id="aff6">Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Debiec, Radoslaw" sort="Debiec, Radoslaw" uniqKey="Debiec R" first="Radoslaw" last="Debiec">Radoslaw Debiec</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Braund, Peter S" sort="Braund, Peter S" uniqKey="Braund P" first="Peter S." last="Braund">Peter S. Braund</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Denniff, Matthew" sort="Denniff, Matthew" uniqKey="Denniff M" first="Matthew" last="Denniff">Matthew Denniff</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Charchar, Fadi J" sort="Charchar, Fadi J" uniqKey="Charchar F" first="Fadi J." last="Charchar">Fadi J. Charchar</name><affiliation><nlm:aff id="aff7">Faculty of Science and Technology, School of Applied and Biomedical Sciences, Federation University Australia, Ballarat, VIC 3350, Australia</nlm:aff></affiliation></author><author><name sortKey="Arjo, Ares Rocanin" sort="Arjo, Ares Rocanin" uniqKey="Arjo A" first="Ares Rocanin" last="Arjo">Ares Rocanin Arjo</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Tregouet, David Alexandre" sort="Tregouet, David Alexandre" uniqKey="Tregouet D" first="David-Alexandre" last="Trégouët">David-Alexandre Trégouët</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Goodall, Alison H" sort="Goodall, Alison H" uniqKey="Goodall A" first="Alison H." last="Goodall">Alison H. Goodall</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Cambien, Francois" sort="Cambien, Francois" uniqKey="Cambien F" first="Francois" last="Cambien">Francois Cambien</name><affiliation><nlm:aff id="aff8">ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff9">INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</nlm:aff></affiliation></author><author><name sortKey="Ouwehand, Willem H" sort="Ouwehand, Willem H" uniqKey="Ouwehand W" first="Willem H." last="Ouwehand">Willem H. Ouwehand</name><affiliation><nlm:aff id="aff11">Department of Haematology, Cambridge Biomedical Campus, University of Cambridge and NHS Blood and Transplant, Cambridge CB2 0PT, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff12">Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK</nlm:aff></affiliation></author><author><name sortKey="Roberts, Robert" sort="Roberts, Robert" uniqKey="Roberts R" first="Robert" last="Roberts">Robert Roberts</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Schunkert, Heribert" sort="Schunkert, Heribert" uniqKey="Schunkert H" first="Heribert" last="Schunkert">Heribert Schunkert</name><affiliation><nlm:aff id="aff13">Deutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany</nlm:aff></affiliation></author><author><name sortKey="Hengstenberg, Christian" sort="Hengstenberg, Christian" uniqKey="Hengstenberg C" first="Christian" last="Hengstenberg">Christian Hengstenberg</name><affiliation><nlm:aff id="aff13">Deutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="aff14">Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany</nlm:aff></affiliation></author><author><name sortKey="Reilly, Muredach P" sort="Reilly, Muredach P" uniqKey="Reilly M" first="Muredach P." last="Reilly">Muredach P. Reilly</name><affiliation><nlm:aff id="aff15">Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19148, USA</nlm:aff></affiliation></author><author><name sortKey="Erdmann, Jeanette" sort="Erdmann, Jeanette" uniqKey="Erdmann J" first="Jeanette" last="Erdmann">Jeanette Erdmann</name><affiliation><nlm:aff id="aff16">Institute for Integrative and Experimental Genomics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Mcpherson, Ruth" sort="Mcpherson, Ruth" uniqKey="Mcpherson R" first="Ruth" last="Mcpherson">Ruth Mcpherson</name><affiliation><nlm:aff id="aff3">Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</nlm:aff></affiliation></author><author><name sortKey="Konig, Inke R" sort="Konig, Inke R" uniqKey="Konig I" first="Inke R." last="König">Inke R. König</name><affiliation><nlm:aff id="aff6">Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany</nlm:aff></affiliation></author><author><name sortKey="Thompson, John R" sort="Thompson, John R" uniqKey="Thompson J" first="John R." last="Thompson">John R. Thompson</name><affiliation><nlm:aff id="aff17">Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK</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="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</nlm:aff></affiliation></author><author><name sortKey="Tomaszewski, Maciej" sort="Tomaszewski, Maciej" uniqKey="Tomaszewski M" first="Maciej" last="Tomaszewski">Maciej Tomaszewski</name><affiliation><nlm:aff id="aff1">Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</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="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Runs of homozygosity (ROHs) are recognized signature of recessive inheritance. Contributions of ROHs to the genetic architecture of coronary artery disease and regulation of gene expression in cells relevant to atherosclerosis are not known. Our combined analysis of 24,320 individuals from 11 populations of white European ethnicity showed an association between coronary artery disease and both the count and the size of ROHs. Individuals with coronary artery disease had approximately 0.63 (95% CI: 0.4<bold>–</bold>0.8) excess of ROHs when compared to coronary-artery-disease<bold>-</bold>free control subjects (p = 1.49 × 10<sup>−9</sup>). The average total length of ROHs was approximately 1,046.92 (95% CI: 634.4<bold>–</bold>1,459.5) kb greater in individuals with coronary artery disease than control subjects (p = 6.61 × 10<sup>−7</sup>). None of the identified individual ROHs was associated with coronary artery disease after correction for multiple testing. However, in aggregate burden analysis, ROHs favoring increased risk of coronary artery disease were much more common than those showing the opposite direction of association with coronary artery disease (p = 2.69 × 10<sup>−33</sup>). Individual ROHs showed significant associations with monocyte and macrophage expression of genes in their close proximity—subjects with several individual ROHs showed significant differences in the expression of 44 mRNAs in monocytes and 17 mRNAs in macrophages when compared to subjects without those ROHs. This study provides evidence for an excess of homozygosity in coronary artery disease in outbred populations and suggest the potential biological relevance of ROHs in cells of importance to the pathogenesis of atherosclerosis.</p></div></front></TEI><pmc article-type="research-article"><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">26166477</article-id><article-id pub-id-type="pmc">4573243</article-id><article-id pub-id-type="publisher-id">S0002-9297(15)00237-2</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2015.06.001</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Christofidou</surname><given-names>Paraskevi</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>Nelson</surname><given-names>Christopher P.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="fn1" ref-type="fn">18</xref></contrib><contrib contrib-type="author"><name><surname>Nikpay</surname><given-names>Majid</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Qu</surname><given-names>Liming</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Li</surname><given-names>Mingyao</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Loley</surname><given-names>Christina</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Debiec</surname><given-names>Radoslaw</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Braund</surname><given-names>Peter S.</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Denniff</surname><given-names>Matthew</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Charchar</surname><given-names>Fadi J.</given-names></name><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Arjo</surname><given-names>Ares Rocanin</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>Trégouët</surname><given-names>David-Alexandre</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>Goodall</surname><given-names>Alison H.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Cambien</surname><given-names>Francois</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>Ouwehand</surname><given-names>Willem H.</given-names></name><xref rid="aff11" ref-type="aff">11</xref><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Roberts</surname><given-names>Robert</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Schunkert</surname><given-names>Heribert</given-names></name><xref rid="aff13" ref-type="aff">13</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Hengstenberg</surname><given-names>Christian</given-names></name><xref rid="aff13" ref-type="aff">13</xref><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Reilly</surname><given-names>Muredach P.</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Erdmann</surname><given-names>Jeanette</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>McPherson</surname><given-names>Ruth</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>König</surname><given-names>Inke R.</given-names></name><xref rid="aff6" ref-type="aff">6</xref></contrib><contrib contrib-type="author"><name><surname>Thompson</surname><given-names>John R.</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Samani</surname><given-names>Nilesh J.</given-names></name><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Tomaszewski</surname><given-names>Maciej</given-names></name><email>mt142@le.ac.uk</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="aff2" ref-type="aff">2</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Cardiovascular Sciences, University of Leicester, Leicester LE3 9QP, UK</aff><aff id="aff2"><label>2</label>NIHR Biomedical Research Unit in Cardiovascular Disease, Leicester LE3 9QP, UK</aff><aff id="aff3"><label>3</label>Ruddy Cardiovascular Genetics Centre, University of Ottawa Heart Institute, Ottawa, ON K1Y 4W7, Canada</aff><aff id="aff4"><label>4</label>Atherogenomics Laboratory, University of Ottawa Heart Institute, Ottawa, ON K1Y 3V5, Canada</aff><aff id="aff5"><label>5</label>Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA 19104, USA</aff><aff id="aff6"><label>6</label>Institute of Medical Biometry and Statistics, University of Lübeck, Lübeck 23562, Germany</aff><aff id="aff7"><label>7</label>Faculty of Science and Technology, School of Applied and Biomedical Sciences, Federation University Australia, Ballarat, VIC 3350, Australia</aff><aff id="aff8"><label>8</label>ICAN Institute for Cardiometabolism and Nutrition, Paris 75013, France</aff><aff id="aff9"><label>9</label>INSERM, UMR_S 1166, Team Genomics & Pathophysiology of Cardiovascular Diseases, Paris 75013, France</aff><aff id="aff10"><label>10</label>Sorbonne Universités, UPMC University, Paris 06, UMR_S 1166, Paris 75013, France</aff><aff id="aff11"><label>11</label>Department of Haematology, Cambridge Biomedical Campus, University of Cambridge and NHS Blood and Transplant, Cambridge CB2 0PT, UK</aff><aff id="aff12"><label>12</label>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1HH, UK</aff><aff id="aff13"><label>13</label>Deutsches Herzzentrum München, Technische Universität München, Munich 80636, Germany</aff><aff id="aff14"><label>14</label>Deutsches Zentrum für Herz- und Kreislauf-Forschung (DZHK), Munich 80636, Germany</aff><aff id="aff15"><label>15</label>Cardiovascular Institute, University of Pennsylvania, Philadelphia, PA 19148, USA</aff><aff id="aff16"><label>16</label>Institute for Integrative and Experimental Genomics, University of Lübeck, Lübeck 23562, Germany</aff><aff id="aff17"><label>17</label>Department of Health Sciences, University of Leicester, Leicester LE1 7RH, UK</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>mt142@le.ac.uk</email></corresp><fn id="fn1"><label>18</label><p>These authors contributed equally to this work</p></fn></author-notes><pub-date pub-type="ppub"><day>06</day><month>8</month><year>2015</year></pub-date><volume>97</volume><issue>2</issue><fpage>228</fpage><lpage>237</lpage><history><date date-type="received"><day>24</day><month>12</month><year>2014</year></date><date date-type="accepted"><day>4</day><month>6</month><year>2015</year></date></history><permissions><copyright-statement>© 2015 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2015</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Runs of homozygosity (ROHs) are recognized signature of recessive inheritance. Contributions of ROHs to the genetic architecture of coronary artery disease and regulation of gene expression in cells relevant to atherosclerosis are not known. Our combined analysis of 24,320 individuals from 11 populations of white European ethnicity showed an association between coronary artery disease and both the count and the size of ROHs. Individuals with coronary artery disease had approximately 0.63 (95% CI: 0.4<bold>–</bold>0.8) excess of ROHs when compared to coronary-artery-disease<bold>-</bold>free control subjects (p = 1.49 × 10<sup>−9</sup>). The average total length of ROHs was approximately 1,046.92 (95% CI: 634.4<bold>–</bold>1,459.5) kb greater in individuals with coronary artery disease than control subjects (p = 6.61 × 10<sup>−7</sup>). None of the identified individual ROHs was associated with coronary artery disease after correction for multiple testing. However, in aggregate burden analysis, ROHs favoring increased risk of coronary artery disease were much more common than those showing the opposite direction of association with coronary artery disease (p = 2.69 × 10<sup>−33</sup>). Individual ROHs showed significant associations with monocyte and macrophage expression of genes in their close proximity—subjects with several individual ROHs showed significant differences in the expression of 44 mRNAs in monocytes and 17 mRNAs in macrophages when compared to subjects without those ROHs. This study provides evidence for an excess of homozygosity in coronary artery disease in outbred populations and suggest the potential biological relevance of ROHs in cells of importance to the pathogenesis of atherosclerosis.</p></abstract></article-meta><notes><p id="misc0010">Published: July 9, 2015</p></notes></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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