Behavioral Neurobiology of Eating Disorders

Volume 6 of the series Current Topics in Behavioral Neurosciences pp 157-175


The Genetics of Eating Disorders

  • Sietske G. HelderAffiliated withMRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London
  • , David A. CollierAffiliated withMRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King’s College London Email author 

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The eating disorders anorexia nervosa (AN), bulimia nervosa (BN), binge eating disorder and allied diagnoses such as eating disorder not otherwise specified are common, complex psychiatric disorders with a significant genetic component. Aetiology is unknown, but both phenotypic characteristics and genetic factors appear to be shared across these disorders, and indeed patients often change between diagnostic categories. Molecular studies have attempted to define genetic risk factors for these disorders, including case-control and family-based candidate gene association studies and linkage analysis of multiply affected nuclear families. These have used both clinical diagnoses and eating disorder-related intermediate phenotypes such as drive-for-thinness or body dissatisfaction. Candidate gene studies have focussed on neurotransmitter and neurodevelopmental systems [e.g. serotonergic, opioid, cannabinoid and dopaminergic receptors, and brain-derived neurotrophic factor (BDNF)], appetite regulatory peptides and their receptors [leptin, ghrelin, agouti-related protein (AgRP), melanocortin receptors, neuropeptide Y], energy balance systems (e.g. uncoupling proteins), genes implicated in obesity (e.g. FTO) and sex hormone systems (e.g. oestrogen receptors), either identified on the basis of their function alone or as positional candidates from linkage analysis. Of these studies, linkage analysis implicates 1p33-36 for AN, 1q31.3 for quantitative behavioural traits related to anorexia and 10p14 for BN, as well as other behavioural phenotypes across both disorders. Candidate gene association has implicated BDNF, delta 1 opioid receptor (OPDR1) and AgRP. More recently, with the advent of genome-wide association studies (GWAS), analysis with microsatellite markers has implicated novel candidate loci for AN at 1q41 and 11q22, and further GWAS results are expected in the near future.


Anorexia nervosa Association Bulimia nervosa Linkage