Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium

Stéphanie M. van den Berg,Marleen H. M. de Moor,Karin J. H. Verweij,Robert F. Krueger,Michelle Luciano,Alejandro Arias Vasquez,Lindsay K. Matteson,Jaime Derringer,Tõnu Esko,Najaf Amin,Scott D. Gordon,Narelle K. Hansell,Amy B. Hart,Ilkka Seppälä,Jennifer E. Huffman,Bettina Konte,Jari Lahti,Minyoung Lee,Mike Miller,Teresa Nutile,Toshiko Tanaka,Alexander Teumer,Alexander Viktorin,Juho Wedenoja,Abdel Abdellaoui,Goncalo R. Abecasis,Daniel E. Adkins,Arpana Agrawal,Jüri Allik,Katja Appel,Timothy B. Bigdeli,Fabio Busonero,Harry Campbell,Paul T. Costa,George Davey Smith,Gail Davies,Harriet de Wit,Jun Ding,Barbara E. Engelhardt,Johan G. Eriksson,Iryna O. Fedko, Luigi Ferrucci,Barbara Franke,Ina Giegling,Richard Grucza,Annette M. Hartmann,Andrew C. Heath,Kati Heinonen,Anjali K. Henders,Georg Homuth,Jouke-Jan Hottenga,William G. Iacono,Joost Janzing,Markus Jokela,Robert Karlsson,John P. Kemp,Matthew G. Kirkpatrick,Antti Latvala,Terho Lehtimäki,David C. Liewald,Pamela A. F. Madden,Chiara Magri,Patrik K. E. Magnusson,Jonathan Marten,Andrea Maschio,Hamdi Mbarek,Sarah E. Medland,Evelin Mihailov,Yuri Milaneschi,Grant W. Montgomery,Matthias Nauck,Michel G. Nivard,Klaasjan G. Ouwens,Aarno Palotie,Erik Pettersson,Ozren Polasek,Yong Qian,Laura Pulkki-Råback,Olli T. Raitakari,Anu Realo,Richard J. Rose,Daniela Ruggiero,Carsten O. Schmidt,Wendy S. Slutske,Rossella Sorice,John M. Starr,Beate St Pourcain,Angelina R. Sutin,Nicholas J. Timpson,Holly Trochet,Sita Vermeulen,Eero Vuoksimaa,Elisabeth Widen,Jasper Wouda,Margaret J. Wright,Lina Zgaga,David Porteous,Alessandra Minelli,Abraham A. Palmer,Dan Rujescu,Marina Ciullo,Caroline Hayward,Igor Rudan,Andres Metspalu,Jaakko Kaprio,Ian J. Deary,Katri Räikkönen, James F. Wilson,Liisa Keltikangas-Järvinen,Laura J. Bierut,John M. Hettema,Hans J. Grabe,Brenda W. J. H. Penninx,Cornelia M. van Duijn,David M. Evans,David Schlessinger,Nancy L. Pedersen,Antonio Terracciano,Matt McGue,Nicholas G. Martin,Dorret I. Boomsma

Behavior Genetics(2015)

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摘要
Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion.
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关键词
Personality, Phenotype harmonization, Common genetic variants, Imputation, Polygenic risk
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