Li, DongChang, XiaoConnolly, John J.M.Tian, LifengLiu, YichuanBhoj, Elizabeth J.Robinson, NoraAbrams, Debra J.Li, Yun RoseBradfield, Jonathan P.Kim, Cecilia E.Li, JinWang, FengxiangSnyder, JamesLemma, MariaHou, CuipingWei, ZhiGuo, YiranQiu, HaijunMentch, Frank D.Thomas, Kelly A.Chiavacci, Rosetta M.Cone, Roger D.Li, BingshanSleiman, Patrick M.A.Eating Disorders Working Group of the Psychiatric Genomics ConsortiumPrice Foundation Collaborative GroupHakonarson, Hakon2018-07-202018-07-202017Li D, Chang X, Connolly JJ, Tian L, Liu Y, Bhoj EJ et al. Eating Disorders Working Group of the Psychiatric Genomics Consortium. A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling. Sci Rep. 2017 Jun 19;7(1):3847. DOI: 10.1038/s41598-017-01674-82045-2322http://hdl.handle.net/10230/35206We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.application/pdfeng© The Author(s) 2017. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41598-017-01674-8Anorexia nervosaLeptin signalingBehavioural geneticsinfo:eu-repo/semantics/openAccess