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

Medientyp: E-Artikel

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

Beteiligte: Huckins, L. M. [VerfasserIn]; Hatzikotoulas, K. [VerfasserIn]; Curtis, C. [VerfasserIn]; Esko, T. [VerfasserIn]; Espeseth, T. [VerfasserIn]; Estivill, X. [VerfasserIn]; Favaro, A. [VerfasserIn]; Fernández-Aranda, F. [VerfasserIn]; Fichter, M. M. [VerfasserIn]; Finan, C. [VerfasserIn]; Fischer, K. [VerfasserIn]; Floyd, J. A. B. [VerfasserIn]; Foretova, L. [VerfasserIn]; Rhodes, D. [VerfasserIn]; Forzan, M. [VerfasserIn]; Franklin, C. S. [VerfasserIn]; Gallinger, S. [VerfasserIn]; Gambaro, G. [VerfasserIn]; Gaspar, H. A. [VerfasserIn]; Giegling, I. [VerfasserIn]; Gonidakis, F. [VerfasserIn]; Gorwood, P. [VerfasserIn]; Gratacos, M. [VerfasserIn]; Guillaume, S. [VerfasserIn]; [...]

Erschienen: Macmillan, 2018

Sprache: Englisch

DOI: https://doi.org/10.1038/mp.2017.88

ISSN: 1476-5578; 1359-4184

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

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