Molecular Genetics of Eating Disorders


Eating disorders are serious psychiatric disorders that have a significant genetic component. Despite recognising this, researchers have yet to identify the specific genetic factors involved in their aetiology. Early methods, including candidate gene association studies, suggested that genetic factors in the serotonin and dopamine systems, as well as the brain‐derived neurotrophic factor gene, were relevant. However, sample sizes for many of these studies were small (<1000 individuals) and nonreplication frequently occurred. Furthermore, modern genomic approaches, including genome‐wide association studies of thousands of individuals, have been underpowered to detect true genomic signals. Information gleaned from large‐scale genetic studies of other psychiatric and medical disorders indicate that even larger sample sizes (∼20 000 individuals), as well as use of emerging genomic approaches [e.g. polygenic risk score, copy number variation, epigenetics, RNA (ribonucleic acid) sequencing and high‐throughput DNA (deoxyribonucleic acid) sequencing], in combination with environmental risk factors, are needed to fully elucidate the aetiology of eating disorders.

Key Concepts

  • Eating disorders have demonstrated a significant genetic component.
  • Candidate gene studies have found associations between eating disorders and genetic markers in a few genes; however, these have not been consistently replicated.
  • To date, genome‐wide association studies have only been conducted for anorexia nervosa.
  • Contemporary genomic approaches, such as polygenic risk scores and epigenetics, are rapidly becoming areas of focus.
  • Information gathered from these genetic studies must eventually be combined with environmental risk factors in order to provide a comprehensive picture of aetiological risk for eating disorders.

Keywords: eating disorders; genetics; anorexia nervosa; bulimia nervosa; binge eating disorder; modern genomic approaches; gene–environment interplay


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Further Reading

Brandys MK, de Kovel CG, Kas MJ, et al. (2015) Overview of genetic research in anorexia nervosa: the past, the present and the future. International Journal of Eating Disorders 48 (7): 814–825.

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Wray NR, Goddard ME and Visscher PM (2007) Prediction of individual genetic risk to disease from genome‐wide association studies. Genome Research 17 (10): 1520–1528.

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Munn‐Chernoff, Melissa A, Yilmaz, Zeynep, Lin, Stacy, and Baker, Jessica H(Nov 2016) Molecular Genetics of Eating Disorders. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0023609]