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To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15\u2009485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for<jats:italic>in silico<\/jats:italic>and<jats:italic>de novo<\/jats:italic>replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in<jats:italic>OPCML<\/jats:italic>(<jats:italic>P<\/jats:italic>=9.89 \u00d7 10<jats:sup>\u22126<\/jats:sup>), and rs7700147, an intergenic variant (<jats:italic>P<\/jats:italic>=2.93 \u00d7 10<jats:sup>\u22125<\/jats:sup>). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.<\/jats:p>","DOI":"10.1038\/mp.2017.88","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T10:55:15Z","timestamp":1500980115000},"page":"1169-1180","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":38,"title":["Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa"],"prefix":"10.1038","volume":"23","author":[{"name":"Eating Disorder Working Group of the Psychiatric Genomics Consortium","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L 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DD is speaker, consultant or on advisory boards of various pharmaceutical companies, including AstraZeneca, Boehringer, Bristol Myers Squibb, Eli Lilly, 28 Genesis Pharma, GlaxoSmithKline, Janssen, Lundbeck, Organon, Sanofi, UniPharma and Wyeth, and he has unrestricted grants from Lilly and AstraZeneca as director of the Sleep Research Unit of Eginition Hospital (National and Kapodistrian University of Athens, Greece). AK is on the Shire Canada BED Advisory Board. JK is a member of SAB of AssurexHealth Inc (unpaid). ML has received lecture honoraria from Lundbeck, AstraZeneca and Biophausia Sweden, and served as scientific consultant for EPID Research Oy. There exists no other equity ownership, profit-sharing agreements, royalties, or patents. PS is scientific advisor to Pfizer, Inc. JT received an honorarium for speaking at a diabetic conference for Lilly and royalties from a published book. The remaining authors declare no conflicts of interest.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}