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.
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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 > School of Life and Medical 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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