No evidence for involvement of polymorphisms of the dopamine D4 receptor gene in anorexia nervosa, underweight, and obesity

Am J Med Genet. 1999 Dec 15;88(6):594-7.


Family and twin studies suggest a genetic contribution to the etiology of anorexia nervosa (AN) and obesity. Genes involved in weight regulation can be considered as candidate genes for AN. The dopaminergic system has been implicated in weight regulation; previous results had suggested a possible involvement of the dopamine D4 receptor gene (DRD4). We screened for alleles of two different polymorphisms (13-bp deletion, 48-bp repeat) in the DRD4. For association tests, allele frequencies were compared between 109 inpatients with AN, 82 underweight students, and 327 extremely obese children and adolescents. For application of transmission disequlibrium tests (TDT) we additionally genotyped 57 and 137 trios comprising a patient with AN or an extremely obese child or adolescent, respectively, and both parents. All genotyping was performed with polymerase chain reaction fragment length polymorphism analyses. None of the association tests or TDT rendered nominal P values below 0.1. An influence of alleles of the DRD4 on the development of AN, underweight, or extreme early onset obesity was not detected. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 88:594-597, 1999.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Anorexia Nervosa / etiology
  • Anorexia Nervosa / genetics*
  • Body Mass Index
  • Child
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Linkage Disequilibrium
  • Male
  • Obesity / etiology
  • Obesity / genetics*
  • Polymorphism, Genetic / genetics*
  • Receptors, Dopamine D2 / genetics*
  • Receptors, Dopamine D4
  • Repetitive Sequences, Nucleic Acid / genetics
  • Sequence Deletion / genetics
  • Thinness / etiology
  • Thinness / genetics*


  • DRD4 protein, human
  • Receptors, Dopamine D2
  • Receptors, Dopamine D4