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Huckins, L.M.* ; Hatzikotoulas, K.* ; Southam, L.* ; Thornton, L.M.* ; Steinberg, J.* ; Aguilera-McKay, F.* ; Treasure, J.* ; Schmidt, U.* ; Gunasinghe, C.* ; Romero, A.M.* ; Curtis, C.* ; Rhodes, D.* ; Moens, J.* ; Kalsi, G.* ; Dempster, D.* ; Leung, R.* ; Keohane, A.* ; Burghardt, R.* ; Ehrlich, S.* ; Hebebrand, J.* ; Hinney, A.* ; Ludolph-Donislawski, A. ; Walton, E.* ; Deloukas, P.* ; Hofman, A.* ; Palotie, A.* ; Palta, P.* ; van Rooij, F.J.A.* ; Stirrups, K.* ; Adan, R.A.* ; Boni, C.* ; Cone, R.D.* ; Dedoussis, G.* ; van Furth, E.F.* ; Gonidakis, F.* ; Gorwood, P.* ; Hudson, J.I.* ; Kaprio, J.* ; Kas, M.J.* ; Keski-Rahonen, A.* ; Kiezebrink, K.* ; Knudsen, G.P.* ; Slof-Op 't Landt, M.C.T.* ; Maj, M.* ; Monteleone, A.M.* ; Monteleone, P.* ; Raevuori, A.H.* ; Reichborn-Kjennerud, T.* ; Tozzi, F.* ; Tsitsika, A.* ; van Elburg, A.A.* ; Collier, D.A.* ; Sullivan, P.F.* ; Breen, G.* ; Bulik, C.M.* ; Zeggini, E.*

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

Mol. Psychiatry 23, 1169-1180 (2018)
Licenced for HMGU: Publ. Version/Full Text online available 11/2022
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.
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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 1359-4184
e-ISSN 1476-5578
Quellenangaben Volume: 23, Issue: 5, Pages: 1169-1180 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Reviewing status Peer reviewed