Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa

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Eating Disorder Working Grp Psych , Huckins , L M , Palotie , A , Palta , P , Kaprio , J , Keski-Rahkonen , A & Raevuori , A H 2018 , ' Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa ' , Molecular Psychiatry , vol. 23 , no. 5 , pp. 1169-1180 . https://doi.org/10.1038/mp.2017.88

Title: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Author: Eating Disorder Working Grp Psych; Huckins, L. M.; Palotie, A.; Palta, P.; Kaprio, J.; Keski-Rahkonen, A.; Raevuori, A. H.
Contributor: University of Helsinki, Centre of Excellence in Complex Disease Genetics
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Institute for Molecular Medicine Finland
University of Helsinki, Anna Keski-Rahkonen / Principal Investigator
University of Helsinki, Department of Public Health
Date: 2018-05
Language: eng
Number of pages: 12
Belongs to series: Molecular Psychiatry
ISSN: 1359-4184
URI: http://hdl.handle.net/10138/235510
Abstract: Anorexia nervosa (AN) is a complex neuropsychiatric disorder presenting with dangerously low body weight, and a deep and persistent fear of gaining weight. To date, only one genome-wide significant locus associated with AN has been identified. We performed an exome-chip based genome-wide association studies (GWAS) in 2158 cases from nine populations of European origin and 15 485 ancestrally matched controls. Unlike previous studies, this GWAS also probed association in low-frequency and rare variants. Sixteen independent variants were taken forward for in silico and de novo replication (11 common and 5 rare). No findings reached genome-wide significance. Two notable common variants were identified: rs10791286, an intronic variant in OPCML (P = 9.89 x 10(-6)), and rs7700147, an intergenic variant (P = 2.93 x 10(-5)). No low-frequency variant associations were identified at genome-wide significance, although the study was well-powered to detect low-frequency variants with large effect sizes, suggesting that there may be no AN loci in this genomic search space with large effect sizes.
Subject: AUTISM SPECTRUM DISORDER
EATING-DISORDERS
BULIMIA-NERVOSA
RISK-FACTORS
HYPOGONADOTROPIC HYPOGONADISM
CONTROLLED FAMILY
CONTROLLED-TRIALS
ARACHIDONIC-ACID
GENE-EXPRESSION
ASSOCIATION
3124 Neurology and psychiatry
3112 Neurosciences
3111 Biomedicine
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