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

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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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