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

Huckins, L. M., Hatzikotoulas, K., Southam, L., Thornton, L. M., Steinberg, J., Aguilera-McKay, F., Kas, M., Treasure, J. & Eating Disorder Working Group of the Psychiatric Genomics Consortium, May-2018, In : Molecular Psychiatry. 23, p. 1169-1180 12 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • L. M. Huckins
  • K. Hatzikotoulas
  • L. Southam
  • L. M. Thornton
  • J. Steinberg
  • F. Aguilera-McKay
  • M. Kas
  • J. Treasure
  • Eating Disorder Working Group of the Psychiatric Genomics Consortium
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
Volume23
Publication statusPublished - May-2018

    Keywords

  • AUTISM SPECTRUM DISORDER, EATING-DISORDERS, BULIMIA-NERVOSA, RISK-FACTORS, HYPOGONADOTROPIC HYPOGONADISM, CONTROLLED FAMILY, CONTROLLED-TRIALS, ARACHIDONIC-ACID, GENE-EXPRESSION, ASSOCIATION

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