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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Impact of a <italic>cis</italic>-associated gene expression SNP in 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance</title><author><name sortKey="Li, Ming" sort="Li, Ming" uniqKey="Li M" first="Ming" last="Li">Ming Li</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Luo, Xiong Jian" sort="Luo, Xiong Jian" uniqKey="Luo X" first="Xiong-Jian" last="Luo">Xiong-Jian Luo</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A4">University of Rochester Flaum Eye Institute, University of Rochester, Rochester, New York, USA</nlm:aff></affiliation></author><author><name sortKey="Landen, Mikael" sort="Landen, Mikael" uniqKey="Landen M" first="Mikael" last="Landén">Mikael Landén</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Section of Psychiatry and Neurochemistry, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Bergen, Sarah E" sort="Bergen, Sarah E" uniqKey="Bergen S" first="Sarah E." last="Bergen">Sarah E. Bergen</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Hultman, Christina M" sort="Hultman, Christina M" uniqKey="Hultman C" first="Christina M." last="Hultman">Christina M. Hultman</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Li, Xiao" sort="Li, Xiao" uniqKey="Li X" first="Xiao" last="Li">Xiao Li</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Zhang, Wen" sort="Zhang, Wen" uniqKey="Zhang W" first="Wen" last="Zhang">Wen Zhang</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Yao, Yong Gang" sort="Yao, Yong Gang" uniqKey="Yao Y" first="Yong-Gang" last="Yao">Yong-Gang Yao</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Zhang, Chen" sort="Zhang, Chen" uniqKey="Zhang C" first="Chen" last="Zhang">Chen Zhang</name><affiliation><nlm:aff id="A9">Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China</nlm:aff></affiliation></author><author><name sortKey="Liu, Jiewei" sort="Liu, Jiewei" uniqKey="Liu J" first="Jiewei" last="Liu">Jiewei Liu</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Mattheisen, Manuel" sort="Mattheisen, Manuel" uniqKey="Mattheisen M" first="Manuel" last="Mattheisen">Manuel Mattheisen</name><affiliation><nlm:aff id="A10">Department of Biomedicine, Aarhus University, Aarhus C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name><affiliation><nlm:aff id="A11">Division of Medical Genetics, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Centre Jülich, D-52425 Jülich, Germany</nlm:aff></affiliation></author><author><name sortKey="Muhleisen, Thomas W" sort="Muhleisen, Thomas W" uniqKey="Muhleisen T" first="Thomas W." last="Mühleisen">Thomas W. Mühleisen</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Centre Jülich, D-52425 Jülich, Germany</nlm:aff></affiliation></author><author><name sortKey="Degenhardt, Franziska A" sort="Degenhardt, Franziska A" uniqKey="Degenhardt F" first="Franziska A." last="Degenhardt">Franziska A. Degenhardt</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M." last="Nöthen">Markus M. Nöthen</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A14">German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Schulze, Thomas G" sort="Schulze, Thomas G" uniqKey="Schulze T" first="Thomas G." last="Schulze">Thomas G. Schulze</name><affiliation><nlm:aff id="A15">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/University of Heidelberg, Mannheim, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Section on Psychiatric Genetics, Department of Psychiatry and Psychotherapy, University Medical Center, Georg-August-University, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Grigoroiu Serbanescu, Maria" sort="Grigoroiu Serbanescu, Maria" uniqKey="Grigoroiu Serbanescu M" first="Maria" last="Grigoroiu-Serbanescu">Maria Grigoroiu-Serbanescu</name><affiliation><nlm:aff id="A17">Biometric Psychiatric Genetics Research Unit, Alexandru Obregia Clinical Psychiatric Hospital, Bucharest, Romania</nlm:aff></affiliation></author><author><name sortKey="Li, Hao" sort="Li, Hao" uniqKey="Li H" first="Hao" last="Li">Hao Li</name><affiliation><nlm:aff id="A18">Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Fuller, Chris K" sort="Fuller, Chris K" uniqKey="Fuller C" first="Chris K." last="Fuller">Chris K. Fuller</name><affiliation><nlm:aff id="A18">Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Chen, Chunhui" sort="Chen, Chunhui" uniqKey="Chen C" first="Chunhui" last="Chen">Chunhui Chen</name><affiliation><nlm:aff id="A19">State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Center for Collaboration and Innovation in Brain and Learning Sciences, Beijing Normal University, Beijing, China</nlm:aff></affiliation></author><author><name sortKey="Dong, Qi" sort="Dong, Qi" uniqKey="Dong Q" first="Qi" last="Dong">Qi Dong</name><affiliation><nlm:aff id="A19">State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Center for Collaboration and Innovation in Brain and Learning Sciences, Beijing Normal University, Beijing, China</nlm:aff></affiliation></author><author><name sortKey="Chen, Chuansheng" sort="Chen, Chuansheng" uniqKey="Chen C" first="Chuansheng" last="Chen">Chuansheng Chen</name><affiliation><nlm:aff id="A21">Department of Psychology and Social Behavior, University of California, Irvine, California, USA</nlm:aff></affiliation></author><author><name sortKey="Jamain, Stephane" sort="Jamain, Stephane" uniqKey="Jamain S" first="Stéphane" last="Jamain">Stéphane Jamain</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Leboyer, Marion" sort="Leboyer, Marion" uniqKey="Leboyer M" first="Marion" last="Leboyer">Marion Leboyer</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Bellivier, Frank" sort="Bellivier, Frank" uniqKey="Bellivier F" first="Frank" last="Bellivier">Frank Bellivier</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">AP-HP, Groupe hospitalier Lariboisière - F. Widal, Pôle de Psychiatrie, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Université Paris Diderot, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Etain, Bruno" sort="Etain, Bruno" uniqKey="Etain B" first="Bruno" last="Etain">Bruno Etain</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Kahn, Jean Pierre" sort="Kahn, Jean Pierre" uniqKey="Kahn J" first="Jean-Pierre" last="Kahn">Jean-Pierre Kahn</name><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Département de Psychiatrie et de Psychologie Clinique, CHU de Nancy, Hôpital Jeanne d'Arc, Toul, France</nlm:aff></affiliation></author><author><name sortKey="Henry, Chantal" sort="Henry, Chantal" uniqKey="Henry C" first="Chantal" last="Henry">Chantal Henry</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Preisig, Martin" sort="Preisig, Martin" uniqKey="Preisig M" first="Martin" last="Preisig">Martin Preisig</name><affiliation><nlm:aff id="A29">Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kutalik, Zoltan" sort="Kutalik, Zoltan" uniqKey="Kutalik Z" first="Zoltán" last="Kutalik">Zoltán Kutalik</name><affiliation><nlm:aff id="A30">Institute of Social and Preventive Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Swiss Institute of Bioinformatics, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Castelao, Enrique" sort="Castelao, Enrique" uniqKey="Castelao E" first="Enrique" last="Castelao">Enrique Castelao</name><affiliation><nlm:aff id="A29">Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Wright, Adam" sort="Wright, Adam" uniqKey="Wright A" first="Adam" last="Wright">Adam Wright</name><affiliation><nlm:aff id="A32">School of Psychiatry, University of New South Wales, Randwick, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Black Dog Institute, Prince of Wales Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Philip B" sort="Mitchell, Philip B" uniqKey="Mitchell P" first="Philip B." last="Mitchell">Philip B. Mitchell</name><affiliation><nlm:aff id="A32">School of Psychiatry, University of New South Wales, Randwick, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Black Dog Institute, Prince of Wales Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Fullerton, Janice M" sort="Fullerton, Janice M" uniqKey="Fullerton J" first="Janice M." last="Fullerton">Janice M. Fullerton</name><affiliation><nlm:aff id="A34">Neuroscience Research Australia, Randwick, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A35">School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Schofield, Peter R" sort="Schofield, Peter R" uniqKey="Schofield P" first="Peter R." last="Schofield">Peter R. Schofield</name><affiliation><nlm:aff id="A34">Neuroscience Research Australia, Randwick, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A35">School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Medland, Sarah E" sort="Medland, Sarah E" uniqKey="Medland S" first="Sarah E." last="Medland">Sarah E. Medland</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Gordon, Scott D" sort="Gordon, Scott D" uniqKey="Gordon S" first="Scott D." last="Gordon">Scott D. Gordon</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Rietschel, Marcella" sort="Rietschel, Marcella" uniqKey="Rietschel M" first="Marcella" last="Rietschel">Marcella Rietschel</name><affiliation><nlm:aff id="A15">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/University of Heidelberg, Mannheim, Germany</nlm:aff></affiliation></author><author><name sortKey="Liu, Chunyu" sort="Liu, Chunyu" uniqKey="Liu C" first="Chunyu" last="Liu">Chunyu Liu</name><affiliation><nlm:aff id="A37">Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Kleinman, Joel E" sort="Kleinman, Joel E" uniqKey="Kleinman J" first="Joel E." last="Kleinman">Joel E. Kleinman</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Hyde, Thomas M" sort="Hyde, Thomas M" uniqKey="Hyde T" first="Thomas M." last="Hyde">Thomas M. Hyde</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Weinberger, Daniel R" sort="Weinberger, Daniel R" uniqKey="Weinberger D" first="Daniel R." last="Weinberger">Daniel R. Weinberger</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Su, Bing" sort="Su, Bing" uniqKey="Su B" first="Bing" last="Su">Bing Su</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">26338991</idno><idno type="pmc">4829352</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4829352</idno><idno type="RBID">PMC:4829352</idno><idno type="doi">10.1192/bjp.bp.114.156976</idno><date when="2015">2015</date><idno type="wicri:Area/Pmc/Corpus">001C85</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001C85</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Impact of a <italic>cis</italic>-associated gene expression SNP in 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance</title><author><name sortKey="Li, Ming" sort="Li, Ming" uniqKey="Li M" first="Ming" last="Li">Ming Li</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Luo, Xiong Jian" sort="Luo, Xiong Jian" uniqKey="Luo X" first="Xiong-Jian" last="Luo">Xiong-Jian Luo</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A4">University of Rochester Flaum Eye Institute, University of Rochester, Rochester, New York, USA</nlm:aff></affiliation></author><author><name sortKey="Landen, Mikael" sort="Landen, Mikael" uniqKey="Landen M" first="Mikael" last="Landén">Mikael Landén</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A6">Section of Psychiatry and Neurochemistry, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden</nlm:aff></affiliation></author><author><name sortKey="Bergen, Sarah E" sort="Bergen, Sarah E" uniqKey="Bergen S" first="Sarah E." last="Bergen">Sarah E. Bergen</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation><affiliation><nlm:aff id="A7">Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA</nlm:aff></affiliation></author><author><name sortKey="Hultman, Christina M" sort="Hultman, Christina M" uniqKey="Hultman C" first="Christina M." last="Hultman">Christina M. Hultman</name><affiliation><nlm:aff id="A5">Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</nlm:aff></affiliation></author><author><name sortKey="Li, Xiao" sort="Li, Xiao" uniqKey="Li X" first="Xiao" last="Li">Xiao Li</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Zhang, Wen" sort="Zhang, Wen" uniqKey="Zhang W" first="Wen" last="Zhang">Wen Zhang</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Yao, Yong Gang" sort="Yao, Yong Gang" uniqKey="Yao Y" first="Yong-Gang" last="Yao">Yong-Gang Yao</name><affiliation><nlm:aff id="A3">Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Zhang, Chen" sort="Zhang, Chen" uniqKey="Zhang C" first="Chen" last="Zhang">Chen Zhang</name><affiliation><nlm:aff id="A9">Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China</nlm:aff></affiliation></author><author><name sortKey="Liu, Jiewei" sort="Liu, Jiewei" uniqKey="Liu J" first="Jiewei" last="Liu">Jiewei Liu</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation><affiliation><nlm:aff id="A8">Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author><author><name sortKey="Mattheisen, Manuel" sort="Mattheisen, Manuel" uniqKey="Mattheisen M" first="Manuel" last="Mattheisen">Manuel Mattheisen</name><affiliation><nlm:aff id="A10">Department of Biomedicine, Aarhus University, Aarhus C, Denmark</nlm:aff></affiliation></author><author><name sortKey="Cichon, Sven" sort="Cichon, Sven" uniqKey="Cichon S" first="Sven" last="Cichon">Sven Cichon</name><affiliation><nlm:aff id="A11">Division of Medical Genetics, University of Basel, Basel, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Centre Jülich, D-52425 Jülich, Germany</nlm:aff></affiliation></author><author><name sortKey="Muhleisen, Thomas W" sort="Muhleisen, Thomas W" uniqKey="Muhleisen T" first="Thomas W." last="Mühleisen">Thomas W. Mühleisen</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A13">Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Centre Jülich, D-52425 Jülich, Germany</nlm:aff></affiliation></author><author><name sortKey="Degenhardt, Franziska A" sort="Degenhardt, Franziska A" uniqKey="Degenhardt F" first="Franziska A." last="Degenhardt">Franziska A. Degenhardt</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Nothen, Markus M" sort="Nothen, Markus M" uniqKey="Nothen M" first="Markus M." last="Nöthen">Markus M. Nöthen</name><affiliation><nlm:aff id="A12">Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A14">German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany</nlm:aff></affiliation></author><author><name sortKey="Schulze, Thomas G" sort="Schulze, Thomas G" uniqKey="Schulze T" first="Thomas G." last="Schulze">Thomas G. Schulze</name><affiliation><nlm:aff id="A15">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/University of Heidelberg, Mannheim, Germany</nlm:aff></affiliation><affiliation><nlm:aff id="A16">Section on Psychiatric Genetics, Department of Psychiatry and Psychotherapy, University Medical Center, Georg-August-University, Göttingen, Germany</nlm:aff></affiliation></author><author><name sortKey="Grigoroiu Serbanescu, Maria" sort="Grigoroiu Serbanescu, Maria" uniqKey="Grigoroiu Serbanescu M" first="Maria" last="Grigoroiu-Serbanescu">Maria Grigoroiu-Serbanescu</name><affiliation><nlm:aff id="A17">Biometric Psychiatric Genetics Research Unit, Alexandru Obregia Clinical Psychiatric Hospital, Bucharest, Romania</nlm:aff></affiliation></author><author><name sortKey="Li, Hao" sort="Li, Hao" uniqKey="Li H" first="Hao" last="Li">Hao Li</name><affiliation><nlm:aff id="A18">Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Fuller, Chris K" sort="Fuller, Chris K" uniqKey="Fuller C" first="Chris K." last="Fuller">Chris K. Fuller</name><affiliation><nlm:aff id="A18">Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, California, USA</nlm:aff></affiliation></author><author><name sortKey="Chen, Chunhui" sort="Chen, Chunhui" uniqKey="Chen C" first="Chunhui" last="Chen">Chunhui Chen</name><affiliation><nlm:aff id="A19">State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Center for Collaboration and Innovation in Brain and Learning Sciences, Beijing Normal University, Beijing, China</nlm:aff></affiliation></author><author><name sortKey="Dong, Qi" sort="Dong, Qi" uniqKey="Dong Q" first="Qi" last="Dong">Qi Dong</name><affiliation><nlm:aff id="A19">State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China</nlm:aff></affiliation><affiliation><nlm:aff id="A20">Center for Collaboration and Innovation in Brain and Learning Sciences, Beijing Normal University, Beijing, China</nlm:aff></affiliation></author><author><name sortKey="Chen, Chuansheng" sort="Chen, Chuansheng" uniqKey="Chen C" first="Chuansheng" last="Chen">Chuansheng Chen</name><affiliation><nlm:aff id="A21">Department of Psychology and Social Behavior, University of California, Irvine, California, USA</nlm:aff></affiliation></author><author><name sortKey="Jamain, Stephane" sort="Jamain, Stephane" uniqKey="Jamain S" first="Stéphane" last="Jamain">Stéphane Jamain</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Leboyer, Marion" sort="Leboyer, Marion" uniqKey="Leboyer M" first="Marion" last="Leboyer">Marion Leboyer</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Bellivier, Frank" sort="Bellivier, Frank" uniqKey="Bellivier F" first="Frank" last="Bellivier">Frank Bellivier</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A26">AP-HP, Groupe hospitalier Lariboisière - F. Widal, Pôle de Psychiatrie, Paris, France</nlm:aff></affiliation><affiliation><nlm:aff id="A27">Université Paris Diderot, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Etain, Bruno" sort="Etain, Bruno" uniqKey="Etain B" first="Bruno" last="Etain">Bruno Etain</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Kahn, Jean Pierre" sort="Kahn, Jean Pierre" uniqKey="Kahn J" first="Jean-Pierre" last="Kahn">Jean-Pierre Kahn</name><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A28">Département de Psychiatrie et de Psychologie Clinique, CHU de Nancy, Hôpital Jeanne d'Arc, Toul, France</nlm:aff></affiliation></author><author><name sortKey="Henry, Chantal" sort="Henry, Chantal" uniqKey="Henry C" first="Chantal" last="Henry">Chantal Henry</name><affiliation><nlm:aff id="A22">Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A23">Université Paris Est, Faculté de Médecine, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A24">Fondation Fondamental, Créteil, France</nlm:aff></affiliation><affiliation><nlm:aff id="A25">AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</nlm:aff></affiliation></author><author><name sortKey="Preisig, Martin" sort="Preisig, Martin" uniqKey="Preisig M" first="Martin" last="Preisig">Martin Preisig</name><affiliation><nlm:aff id="A29">Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Kutalik, Zoltan" sort="Kutalik, Zoltan" uniqKey="Kutalik Z" first="Zoltán" last="Kutalik">Zoltán Kutalik</name><affiliation><nlm:aff id="A30">Institute of Social and Preventive Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</nlm:aff></affiliation><affiliation><nlm:aff id="A31">Swiss Institute of Bioinformatics, Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Castelao, Enrique" sort="Castelao, Enrique" uniqKey="Castelao E" first="Enrique" last="Castelao">Enrique Castelao</name><affiliation><nlm:aff id="A29">Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Wright, Adam" sort="Wright, Adam" uniqKey="Wright A" first="Adam" last="Wright">Adam Wright</name><affiliation><nlm:aff id="A32">School of Psychiatry, University of New South Wales, Randwick, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Black Dog Institute, Prince of Wales Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Mitchell, Philip B" sort="Mitchell, Philip B" uniqKey="Mitchell P" first="Philip B." last="Mitchell">Philip B. Mitchell</name><affiliation><nlm:aff id="A32">School of Psychiatry, University of New South Wales, Randwick, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A33">Black Dog Institute, Prince of Wales Hospital, Randwick, Australia</nlm:aff></affiliation></author><author><name sortKey="Fullerton, Janice M" sort="Fullerton, Janice M" uniqKey="Fullerton J" first="Janice M." last="Fullerton">Janice M. Fullerton</name><affiliation><nlm:aff id="A34">Neuroscience Research Australia, Randwick, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A35">School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Schofield, Peter R" sort="Schofield, Peter R" uniqKey="Schofield P" first="Peter R." last="Schofield">Peter R. Schofield</name><affiliation><nlm:aff id="A34">Neuroscience Research Australia, Randwick, Sydney, Australia</nlm:aff></affiliation><affiliation><nlm:aff id="A35">School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia</nlm:aff></affiliation></author><author><name sortKey="Montgomery, Grant W" sort="Montgomery, Grant W" uniqKey="Montgomery G" first="Grant W." last="Montgomery">Grant W. Montgomery</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Medland, Sarah E" sort="Medland, Sarah E" uniqKey="Medland S" first="Sarah E." last="Medland">Sarah E. Medland</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Gordon, Scott D" sort="Gordon, Scott D" uniqKey="Gordon S" first="Scott D." last="Gordon">Scott D. Gordon</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name><affiliation><nlm:aff id="A36">Queensland Institute of Medical Research, Brisbane, Australia</nlm:aff></affiliation></author><author><name sortKey="Rietschel, Marcella" sort="Rietschel, Marcella" uniqKey="Rietschel M" first="Marcella" last="Rietschel">Marcella Rietschel</name><affiliation><nlm:aff id="A15">Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/University of Heidelberg, Mannheim, Germany</nlm:aff></affiliation></author><author><name sortKey="Liu, Chunyu" sort="Liu, Chunyu" uniqKey="Liu C" first="Chunyu" last="Liu">Chunyu Liu</name><affiliation><nlm:aff id="A37">Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA</nlm:aff></affiliation></author><author><name sortKey="Kleinman, Joel E" sort="Kleinman, Joel E" uniqKey="Kleinman J" first="Joel E." last="Kleinman">Joel E. Kleinman</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Hyde, Thomas M" sort="Hyde, Thomas M" uniqKey="Hyde T" first="Thomas M." last="Hyde">Thomas M. Hyde</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Weinberger, Daniel R" sort="Weinberger, Daniel R" uniqKey="Weinberger D" first="Daniel R." last="Weinberger">Daniel R. Weinberger</name><affiliation><nlm:aff id="A2">Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</nlm:aff></affiliation></author><author><name sortKey="Su, Bing" sort="Su, Bing" uniqKey="Su B" first="Bing" last="Su">Bing Su</name><affiliation><nlm:aff id="A1">State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</nlm:aff></affiliation></author></analytic><series><title level="j">The British journal of psychiatry : the journal of mental science</title><idno type="ISSN">0007-1250</idno><idno type="eISSN">1472-1465</idno><imprint><date when="2015">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec id="S1"><title>Summary</title><p id="P1">Bipolar disorder (BPD) is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for BPD among the expression quantitative trait loci (eQTL) in the brain.</p></sec><sec id="S2"><title>Aims</title><p id="P2">We sought to assess the impact of eQTL variants on BPD risk by combining data from both BPD genome-wide association study (GWAS) and brain eQTL.</p></sec><sec id="S3"><title>Method</title><p id="P3">To detect single-nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with BPD, we jointly analyzed data from a BPD GWAS (7,481 cases and 9,250 controls) and a genome-wide brain (cortical) eQTL (193 healthy controls) using a Bayesian statistical method, with independent follow-up replications. The identified risk SNP was then further tested for association with hippocampal volume (N=5,775) and cognitive performance (N=342) among healthy subjects.</p></sec><sec id="S4"><title>Results</title><p id="P4">Integrative analysis revealed a significant association between a brain eQTL rs6088662 in 20q11.22 and BPD (Log Bayes Factor=5.48; BPD p-val=5.85×10<sup>−5</sup>). Follow-up studies across multiple independent samples confirmed the association of the risk SNP (rs6088662) with gene expression and BPD susceptibility (p-val=3.54×10<sup>−8</sup>). Further exploratory analysis revealed that rs6088662 is also associated with hippocampal volume and cognitive performance in healthy subjects.</p></sec><sec id="S5"><title>Conclusions</title><p id="P5">Our findings suggest that 20q11.22 is likely a risk region for BPD, highlighting the informativeness of integrating functional annotation of genetic variants for gene expression in advancing our understanding of the biological basis underlying complex diseases such as BPD.</p></sec></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>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">0342367</journal-id><journal-id journal-id-type="pubmed-jr-id">1899</journal-id><journal-id journal-id-type="nlm-ta">Br J Psychiatry</journal-id><journal-id journal-id-type="iso-abbrev">Br J Psychiatry</journal-id><journal-title-group><journal-title>The British journal of psychiatry : the journal of mental science</journal-title></journal-title-group><issn pub-type="ppub">0007-1250</issn><issn pub-type="epub">1472-1465</issn></journal-meta><article-meta><article-id pub-id-type="pmid">26338991</article-id><article-id pub-id-type="pmc">4829352</article-id><article-id pub-id-type="doi">10.1192/bjp.bp.114.156976</article-id><article-id pub-id-type="manuscript">NIHMS775439</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Impact of a <italic>cis</italic>-associated gene expression SNP in 20q11.22 on bipolar disorder 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rid="A34">34</xref><xref ref-type="aff" rid="A35">35</xref></contrib><contrib contrib-type="author"><name><surname>Montgomery</surname><given-names>Grant W.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Medland</surname><given-names>Sarah E.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Gordon</surname><given-names>Scott D.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><name><surname>Martin</surname><given-names>Nicholas G.</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A36">36</xref></contrib><contrib contrib-type="author"><collab>MooDS Consortium</collab><xref rid="FN3" ref-type="author-notes">#</xref></contrib><contrib contrib-type="author"><collab>The Swedish Bipolar Study Group</collab><xref rid="FN3" ref-type="author-notes">#</xref></contrib><contrib contrib-type="author"><name><surname>Rietschel</surname><given-names>Marcella</given-names></name><degrees>M.D., Ph.D.</degrees><xref ref-type="aff" rid="A15">15</xref></contrib><contrib contrib-type="author"><name><surname>Liu</surname><given-names>Chunyu</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A37">37</xref></contrib><contrib contrib-type="author"><name><surname>Kleinman</surname><given-names>Joel E.</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Hyde</surname><given-names>Thomas M.</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Weinberger</surname><given-names>Daniel R.</given-names></name><degrees>M.D.</degrees><xref ref-type="aff" rid="A2">2</xref></contrib><contrib contrib-type="author"><name><surname>Su</surname><given-names>Bing</given-names></name><degrees>Ph.D.</degrees><xref ref-type="aff" rid="A1">1</xref></contrib></contrib-group><aff id="A1"><label>1</label>State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan, China</aff><aff id="A2"><label>2</label>Lieber Institute for Brain Development, Johns Hopkins University, Baltimore, Maryland, USA</aff><aff id="A3"><label>3</label>Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan, China</aff><aff id="A4"><label>4</label>University of Rochester Flaum Eye Institute, University of Rochester, Rochester, New York, USA</aff><aff id="A5"><label>5</label>Department of Medical Epidemiology and Biostatistics, Karolinska Institute, Stockholm, Sweden</aff><aff id="A6"><label>6</label>Section of Psychiatry and Neurochemistry, Sahlgrenska Academy at Gothenburg University, Gothenburg, Sweden</aff><aff id="A7"><label>7</label>Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, USA</aff><aff id="A8"><label>8</label>Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, Yunnan, China</aff><aff id="A9"><label>9</label>Schizophrenia Program, Shanghai Mental Health Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China</aff><aff id="A10"><label>10</label>Department of Biomedicine, Aarhus University, Aarhus C, Denmark</aff><aff id="A11"><label>11</label>Division of Medical Genetics, University of Basel, Basel, Switzerland</aff><aff id="A12"><label>12</label>Institute of Human Genetics and Department of Genomics, Life and Brain Center, University of Bonn, Bonn, Germany</aff><aff id="A13"><label>13</label>Institute of Neuroscience and Medicine (INM-1), Structural and Functional Organization of the Brain, Genomic Imaging, Research Centre Jülich, D-52425 Jülich, Germany</aff><aff id="A14"><label>14</label>German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany</aff><aff id="A15"><label>15</label>Department of Genetic Epidemiology in Psychiatry, Central Institute of Mental Health, Medical Faculty Mannheim/University of Heidelberg, Mannheim, Germany</aff><aff id="A16"><label>16</label>Section on Psychiatric Genetics, Department of Psychiatry and Psychotherapy, University Medical Center, Georg-August-University, Göttingen, Germany</aff><aff id="A17"><label>17</label>Biometric Psychiatric Genetics Research Unit, Alexandru Obregia Clinical Psychiatric Hospital, Bucharest, Romania</aff><aff id="A18"><label>18</label>Department of Biochemistry and Biophysics, University of California at San Francisco, San Francisco, California, USA</aff><aff id="A19"><label>19</label>State Key Laboratory of Cognitive Neuroscience and Learning & IDG/McGovern Institute for Brain Research, Beijing Normal University, Beijing, China</aff><aff id="A20"><label>20</label>Center for Collaboration and Innovation in Brain and Learning Sciences, Beijing Normal University, Beijing, China</aff><aff id="A21"><label>21</label>Department of Psychology and Social Behavior, University of California, Irvine, California, USA</aff><aff id="A22"><label>22</label>Inserm U 955, IMRB, Psychiatrie Génétique, Créteil, France</aff><aff id="A23"><label>23</label>Université Paris Est, Faculté de Médecine, Créteil, France</aff><aff id="A24"><label>24</label>Fondation Fondamental, Créteil, France</aff><aff id="A25"><label>25</label>AP-HP, Hôpital A. Chenevier - H. Mondor, Pôle de Psychiatrie, Créteil, France</aff><aff id="A26"><label>26</label>AP-HP, Groupe hospitalier Lariboisière - F. Widal, Pôle de Psychiatrie, Paris, France</aff><aff id="A27"><label>27</label>Université Paris Diderot, Paris, France</aff><aff id="A28"><label>28</label>Département de Psychiatrie et de Psychologie Clinique, CHU de Nancy, Hôpital Jeanne d'Arc, Toul, France</aff><aff id="A29"><label>29</label>Department of Psychiatry, Centre Hospitalier Universitaire Vaudois, Prilly, Switzerland</aff><aff id="A30"><label>30</label>Institute of Social and Preventive Medicine, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</aff><aff id="A31"><label>31</label>Swiss Institute of Bioinformatics, Lausanne, Switzerland</aff><aff id="A32"><label>32</label>School of Psychiatry, University of New South Wales, Randwick, Australia</aff><aff id="A33"><label>33</label>Black Dog Institute, Prince of Wales Hospital, Randwick, Australia</aff><aff id="A34"><label>34</label>Neuroscience Research Australia, Randwick, Sydney, Australia</aff><aff id="A35"><label>35</label>School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia</aff><aff id="A36"><label>36</label>Queensland Institute of Medical Research, Brisbane, Australia</aff><aff id="A37"><label>37</label>Department of Psychiatry, University of Illinois at Chicago, Chicago, Illinois, USA</aff><author-notes><corresp id="FN1">Correspondence: Ming Li or Bing Su, Kunming Institute of Zoology, Chinese Academy of Sciences, 32 East Jiao-chang Rd., Kunming 650223, Yunnan, People’s Republic of China. <email>limingkiz@gmail.com</email> (M. Li), or <email>sub@mail.kiz.ac.cn</email> (B. Su)</corresp><fn id="FN2" fn-type="equal"><label>†</label><p>These authors contributed equally to this work.</p></fn><fn id="FN3"><label>#</label><p>A list of the additional members is provided in the Appendix.</p></fn></author-notes><pub-date pub-type="nihms-submitted"><day>8</day><month>4</month><year>2016</year></pub-date><pub-date pub-type="epub"><day>03</day><month>9</month><year>2015</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2016</year></pub-date><pub-date pub-type="pmc-release"><day>01</day><month>2</month><year>2017</year></pub-date><volume>208</volume><issue>2</issue><fpage>128</fpage><lpage>137</lpage><pmc-comment>elocation-id from pubmed: 10.1192/bjp.bp.114.156976</pmc-comment>
<abstract><sec id="S1"><title>Summary</title><p id="P1">Bipolar disorder (BPD) is a highly heritable polygenic disorder. Recent enrichment analyses suggest that there may be true risk variants for BPD among the expression quantitative trait loci (eQTL) in the brain.</p></sec><sec id="S2"><title>Aims</title><p id="P2">We sought to assess the impact of eQTL variants on BPD risk by combining data from both BPD genome-wide association study (GWAS) and brain eQTL.</p></sec><sec id="S3"><title>Method</title><p id="P3">To detect single-nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with BPD, we jointly analyzed data from a BPD GWAS (7,481 cases and 9,250 controls) and a genome-wide brain (cortical) eQTL (193 healthy controls) using a Bayesian statistical method, with independent follow-up replications. The identified risk SNP was then further tested for association with hippocampal volume (N=5,775) and cognitive performance (N=342) among healthy subjects.</p></sec><sec id="S4"><title>Results</title><p id="P4">Integrative analysis revealed a significant association between a brain eQTL rs6088662 in 20q11.22 and BPD (Log Bayes Factor=5.48; BPD p-val=5.85×10<sup>−5</sup>). Follow-up studies across multiple independent samples confirmed the association of the risk SNP (rs6088662) with gene expression and BPD susceptibility (p-val=3.54×10<sup>−8</sup>). Further exploratory analysis revealed that rs6088662 is also associated with hippocampal volume and cognitive performance in healthy subjects.</p></sec><sec id="S5"><title>Conclusions</title><p id="P5">Our findings suggest that 20q11.22 is likely a risk region for BPD, highlighting the informativeness of integrating functional annotation of genetic variants for gene expression in advancing our understanding of the biological basis underlying complex diseases such as BPD.</p></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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