Association of multiple DRD2 polymorphisms with anorexia nervosa Academic Article uri icon


MeSH Major

  • Anorexia Nervosa
  • Genetic Predisposition to Disease
  • Linkage Disequilibrium
  • Polymorphism, Single Nucleotide
  • Receptors, Dopamine D2


  • To investigate whether the dopaminergic system plays a role in the etiology of anorexia nervosa (AN) via the dopamine D2 receptor, we investigated association and transmission disequilibrium at seven single-nucleotide polymorphisms (SNPs) spanning about 75 kbp of the gene DRD2. We studied 191 probands with a DSM-IV diagnosis of AN, 457 parents and affected relatives with a DSM-IV eating disorder diagnosis, and 98 unrelated, female, normal weight controls. The -141 C/- insertion/deletion (-141 Indel), previously shown to affect DRD2 transcription efficiency, and multiple exon seven polymorphisms, one of which has previously been shown to affect DRD2 transcript stability, exhibited statistically significant association with diagnosis in haplotype transmission disequilibrium and in haplotype case : control analyses. Significant linkage disequilibrium between the -141 Indel and two exon seven SNPs (939Y and 957Y) was observed over a distance of >50 kbp in the AN probands but not in the controls. Genetically transmitted variation in D2 dopamine receptor expression mediated by functional polymorphisms affecting transcription and translation efficiency may play a role in vulnerability to AN.

publication date

  • September 2005



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.1038/sj.npp.1300719

PubMed ID

  • 15920508

Additional Document Info

start page

  • 1703

end page

  • 10


  • 30


  • 9