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Mol Psychiatry ; 23(5): 1169-1180, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29155802

RESUMO

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.


Assuntos
Anorexia Nervosa/genética , Moléculas de Adesão Celular/genética , Exoma/genética , Família , Feminino , Proteínas Ligadas por GPI/genética , Predisposição Genética para Doença/genética , Variação Genética/genética , Estudo de Associação Genômica Ampla , Genótipo , Humanos , Íntrons/genética , Masculino , Fenótipo , Polimorfismo de Nucleotídeo Único/genética , População Branca/genética
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