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A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

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dc.contributor.author Li, Dong
dc.contributor.author Chang, Xiao
dc.contributor.author Connolly, John J.M.
dc.contributor.author Tian, Lifeng
dc.contributor.author Liu, Yichuan
dc.contributor.author Bhoj, Elizabeth J.
dc.contributor.author Robinson, Nora
dc.contributor.author Abrams, Debra J.
dc.contributor.author Li, Yun Rose
dc.contributor.author Bradfield, Jonathan P.
dc.contributor.author Kim, Cecilia E.
dc.contributor.author Li, Jin
dc.contributor.author Wang, Fengxiang
dc.contributor.author Snyder, James
dc.contributor.author Lemma, Maria
dc.contributor.author Hou, Cuiping
dc.contributor.author Wei, Zhi
dc.contributor.author Guo, Yiran
dc.contributor.author Qiu, Haijun
dc.contributor.author Mentch, Frank D.
dc.contributor.author Thomas, Kelly A.
dc.contributor.author Chiavacci, Rosetta M.
dc.contributor.author Cone, Roger D.
dc.contributor.author Li, Bingshan
dc.contributor.author Sleiman, Patrick M.A.
dc.contributor.author Eating Disorders Working Group of the Psychiatric Genomics Consortium
dc.contributor.author Price Foundation Collaborative Group
dc.contributor.author Hakonarson, Hakon
dc.date.accessioned 2018-07-20T07:34:21Z
dc.date.available 2018-07-20T07:34:21Z
dc.date.issued 2017
dc.identifier.citation Li 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/s41598-017-01674-8
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/35206
dc.description.abstract 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.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Scientific Reports. 2017 Jun 19;7(1):3847
dc.rights © 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/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41598-017-01674-8
dc.subject.keyword Anorexia nervosa
dc.subject.keyword Leptin signaling
dc.subject.keyword Behavioural genetics
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion

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