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Mol Psychiatry ; 23(5): 1169-1180, 2018 05.
Article in English | MEDLINE | ID: mdl-29155802

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 × 10-6), and rs7700147, an intergenic variant (P=2.93 × 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(s)
Anorexia Nervosa/genetics , Cell Adhesion Molecules/genetics , Exome/genetics , Family , Female , GPI-Linked Proteins/genetics , Genetic Predisposition to Disease/genetics , Genetic Variation/genetics , Genome-Wide Association Study , Genotype , Humans , Introns/genetics , Male , Phenotype , Polymorphism, Single Nucleotide/genetics , White People/genetics
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