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

Laura M. Huckins, Konstantinos Hatzikotoulas, L. Southam, Laura M. Thornton, J.S. Steinberg, F Aguilera-McKay, J. Treasure, U. Schmidt, C Gunasinghe, Atocha Romero, Charles Curtis, Davina H. Rhodes, Hein J Bernelot Moens, Gursharan Kalsi, D Dempster, R Leung, A Keohane, Roland Burghardt, S. Ehrlich, J. HebebrandA. Hinney, A. Ludolph, Esther Walton, P. Deloukas, A. Hofman, A. Palotie, P. Palta, Frank J A Van Rooij, Kathleen Stirrups, R Adan, Claudette Boni, Roger Cone, George Dedoussis, E.E. Furth, Fragiskos Gonidakis, P. Gorwood, Thomas J. Hudson, Jaakko Kaprio, M Kas, A Keski-Rahonen, K. Kiezebrink, Gun Peggy S. Knudsen, M C T Slof-Op 't Landt, Mario Maj, Alessio Maria Monteleone, Palmiero Monteleone, A H Raevuori, Ted Reichborn-Kjennerud, F. Tozzi, Artemis Tsitsika,

Research output: Contribution to journalArticleAcademicpeer-review


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.

Original languageEnglish
Pages (from-to)1169-1180
Number of pages12
JournalMolecular Psychiatry
Issue number5
Publication statusPublished - 2018


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