Polymorphisms in the dopamine D5 receptor (DRD5) gene and ADHD

Am J Med Genet B Neuropsychiatr Genet. 2004 Feb 15;125B(1):38-42. doi: 10.1002/ajmg.b.20127.


There is considerable evidence to support a role of dopamine-related genes in the molecular aetiology of attention-deficit hyperactivity disorder (ADHD). A microsatellite located near the dopamine D5 receptor (DRD5) gene has been associated with ADHD in a number of studies, but other polymorphisms within the vicinity of this gene have not been examined. In this study we genotyped three microsatellites spanning the DRD5 region in a large clinical sample. Overall, we found little evidence to support a role for DRD5 in ADHD. We found no evidence of association with either the previously associated DRD5 marker, or a repeat in the promoter region of the gene. We did, however, find significant association for an allele of D4S615, a dinucleotide repeat located 131 kb 3' of DRD5 that has been previously associated with schizophrenia. A global test incorporating all alleles of this marker, however, was not significant and thus this finding needs replication before any conclusions can be made.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Linkage Disequilibrium / genetics
  • Male
  • Minisatellite Repeats / genetics*
  • Polymorphism, Genetic / genetics*
  • Receptors, Dopamine D1 / genetics*
  • Receptors, Dopamine D5
  • Schizophrenia / genetics*


  • DRD5 protein, human
  • Receptors, Dopamine D1
  • Receptors, Dopamine D5