2026-04-13T02:05:21Zhttps://recercat.cat/oai/request

oai:recercat.cat:10230/352062025-12-12T04:11:17Zcom_2072_6col_2072_452952

00925njm 22002777a 4500 dc Li, Dong author Chang, Xiao author Connolly, John J.M. author Tian, Lifeng author Liu, Yichuan author Bhoj, Elizabeth J. author Robinson, Nora author Abrams, Debra J. author Li, Yun Rose author Bradfield, Jonathan P. author Kim, Cecilia E. author Li, Jin author Wang, Fengxiang author Snyder, James author Lemma, Maria author Hou, Cuiping author Wei, Zhi author Guo, Yiran author Qiu, Haijun author Mentch, Frank D. author Thomas, Kelly A. author Chiavacci, Rosetta M. author Cone, Roger D. author Li, Bingshan author Sleiman, Patrick M.A. author Eating Disorders Working Group of the Psychiatric Genomics Consortium author Price Foundation Collaborative Group author Hakonarson, Hakon author 2018-07-20T07:34:21Z 2018-07-20T07:34:21Z 2017 We 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. Anorexia nervosa Leptin signaling Behavioural genetics A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling