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Sci Rep. 2017 Jun 19;7(1):3847. doi: 10.1038/s41598-017-01674-8.

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

Scientific reports

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 A Sleiman, Hakon Hakonarson

Affiliations

  1. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [email protected].
  2. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  3. Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN, USA.
  4. Department of Molecular and Integrative Physiology, University of Michigan, Ann Arbor, MI, USA.
  5. Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [email protected].
  6. Department of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. [email protected].
  7. Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [email protected].

PMID: 28630421 PMCID: PMC5476671 DOI: 10.1038/s41598-017-01674-8

Abstract

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

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