• Media type: E-Article
  • Title: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
  • Contributor: Huckins, L. M. [Author]; Hatzikotoulas, K. [Author]; Curtis, C. [Author]; Esko, T. [Author]; Espeseth, T. [Author]; Estivill, X. [Author]; Favaro, A. [Author]; Fernández-Aranda, F. [Author]; Fichter, M. M. [Author]; Finan, C. [Author]; Fischer, K. [Author]; Floyd, J. A. B. [Author]; Foretova, L. [Author]; Rhodes, D. [Author]; Forzan, M. [Author]; Franklin, C. S. [Author]; Gallinger, S. [Author]; Gambaro, G. [Author]; Gaspar, H. A. [Author]; Giegling, I. [Author]; Gonidakis, F. [Author]; Gorwood, P. [Author]; Gratacos, M. [Author]; Guillaume, S. [Author]; [...]
  • imprint: Macmillan, 2018
  • Published in: Molecular psychiatry 23, 1169–1180 (2018). doi:10.1038/mp.2017.88
  • Language: English
  • DOI: https://doi.org/10.1038/mp.2017.88
  • ISSN: 1476-5578; 1359-4184
  • Origination:
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  • Description: 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.
  • Access State: Open Access