Li , D , Chang , X , Connolly , J J , Tian , L , Liu , Y , Bhoj , E J , Robinson , N , Abrams , D , Li , Y R , Bradfield , J P , Kim , C E , Li , J , Wang , F , Snyder , J , Lemma , M , Hou , C , Wei , Z , Guo , Y , Qiu , H , Mentch , F D , Thomas , K A , Chiavacci , R M , Cone , R , Li , B , Sleiman , P A , Hakonarson , H , Eating Disorders Working Group of the Psychiatric Genomics Consortium , Kaprio , J , Palotie , A , Raevuori-Helkamaa , A , Ripatti , S & Price Fdn Collaborative Grp 2017 , ' A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling ' , Scientific Reports , vol. 7 , 3847 . https://doi.org/10.1038/s41598-017-01674-8
Title: | A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling |
Author: | Li, Dong; Chang, Xiao; Connolly, John J.; Tian, Lifeng; Liu, Yichuan; Bhoj, Elizabeth J.; Robinson, Nora; Abrams, Debra; Li, Yun R.; Bradfield, Jonathan P.; Kim, Cecilia E.; Li, Jin; Wang, Fengxiang; Snyder, James; Lemma, Maria; Hou, Cuiping; Wei, Zhi; Guo, Yiran; Qiu, Haijun; Mentch, Frank D.; Thomas, Kelly A.; Chiavacci, Rosetta M.; Cone, Roger; Li, Bingshan; Sleiman, Patrick A.; Hakonarson, Hakon; Eating Disorders Working Group of the Psychiatric Genomics Consortium; Kaprio, Jaakko; Palotie, Aarno; Raevuori-Helkamaa, Anu; Ripatti, Samuli; Price Fdn Collaborative Grp |
Contributor organization: | Centre of Excellence in Complex Disease Genetics Aarno Palotie / Principal Investigator Institute for Molecular Medicine Finland Department of Public Health Clinicum Samuli Olli Ripatti / Principal Investigator Biostatistics Helsinki HUS Children and Adolescents Complex Disease Genetics Genomics of Neurological and Neuropsychiatric Disorders Genetic Epidemiology |
Date: | 2017-06-19 |
Language: | eng |
Number of pages: | 9 |
Belongs to series: | Scientific Reports |
ISSN: | 2045-2322 |
DOI: | https://doi.org/10.1038/s41598-017-01674-8 |
URI: | http://hdl.handle.net/10138/204071 |
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 x 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. |
Description: | J. Kaprio, A. Palotie, A. Raevuori-Helkamaa ja S. Ripatti ovat työryhmän Eating Disorders Working Group of the Psychiatric Genomics Consortium jäseniä. Erratum in: Sci Rep. 2017 Aug 21;7(1):8379, doi: 10.1038/s41598-017-06409-3 |
Subject: |
OBSESSIVE-COMPULSIVE DISORDER
B-CELL-FACTOR EATING-DISORDERS GENETICS PARAMETERS VARIANTS PRESSURE CHILDREN EBF1 3124 Neurology and psychiatry 3142 Public health care science, environmental and occupational health |
Peer reviewed: | Yes |
Rights: | cc_by |
Usage restriction: | openAccess |
Self-archived version: | publishedVersion |
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