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

[en] 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.Molecular Psychiatry advance online publication, 25 July 2017; doi:10.1038/mp.2017.88.

Disciplines :

Genetics & genetic processes

Author, co-author :

Huckins, Laura M.

Hatzikotoulas, K.

Southam, Lorraine

Thornton, Laura M.

Steinberg, J.

Aguilera-McKay, F.

Treasure, Janet

Schmidt, U.

Gunasinghe, C.

Romero, A.

More authors (46 more)

Other collaborator :

DOCAMPO MARTINEZ, Elisa ; Centre Hospitalier Universitaire de Liège - CHU > Service de rhumatologie

Language :

English

Title :

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

Publication date :

2017

Journal title :

Molecular Psychiatry

ISSN :

1359-4184

eISSN :

1476-5578

Publisher :

Nature Publishing Group, United Kingdom

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 28 February 2018

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