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

Huckins, LM; Hatzikotoulas, K; Southam, L; Thornton, LM; Steinberg, J; Aguilera-McKay, F; Treasure, J; ... Zeggini, E; + view all (2018) Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa. Molecular Psychiatry , 23 (5) pp. 1169-1180. 10.1038/mp.2017.88. Green open access

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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}). o 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.

Type: Article
Title: Investigation of common, low-frequency and rare genome-wide variation in anorexia nervosa
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/mp.2017.88
Publisher version: https://doi.org/10.1038/mp.2017.88
Language: English
Additional information: © The Author(s) 2018. This work is licensed under a Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/).
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Population, Policy and Practice Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10072005
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