A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling

Li, X-D., Chang, X., Connolly, J. J., Tian, L., Liu, Y., Bhoj, E. J., Robinson, N., Abrams, D., Li, Y. R., Bradfield, J. P., Kim, C. E., Li, J., Wang, F., Snyder, J., Lemma, M., Hou, C., Wei, Z., Guo, Y., Qiu, H., Mentch, F. D., Thomas, K. A., Chiavacci, R. M., Cone, R., Li, B., Sleiman, P. M. A., Hakonarson, H. & Eating Disorders Working Group of the Psychiatric Genomics Consortium, 19-Jun-2017, In : Scientific Reports. 7, 1, 9 p., 3847.

Research output: Contribution to journalArticleAcademicpeer-review

  • Xiang-Dong Li
  • Xiao Chang
  • John J. Connolly
  • Lifeng Tian
  • Yichuan Liu
  • Elizabeth J Bhoj
  • Nora Robinson
  • Debra Abrams
  • Yun R. Li
  • Jonathan P. Bradfield
  • Cecilia E. Kim
  • Jin Li
  • Fengxiang Wang
  • James Snyder
  • Maria Lemma
  • Cuiping Hou
  • Zhi Wei
  • Yiran Guo
  • Haijun Qiu
  • Frank D. Mentch
  • Kelly A. Thomas
  • Rosetta M. Chiavacci
  • Roger Cone
  • Bingshan Li
  • Patrick M. A. Sleiman
  • Hakon Hakonarson
  • Eating Disorders Working Group of the Psychiatric Genomics Consortium

We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 × 10(-7); OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.

Original languageEnglish
Article number3847
Number of pages9
JournalScientific Reports
Issue number1
Publication statusPublished - 19-Jun-2017


  • Journal Article

View graph of relations

Download statistics

No data available

ID: 43942647