Association study of promoter polymorphisms at the dopamine transporter gene in Attention Deficit Hyperactivity Disorder

BMC Psychiatry. 2009 Feb 5;9:3. doi: 10.1186/1471-244X-9-3.

Abstract

Background: Attention deficit hyperactivity disorder (ADHD) is a complex neurobehavioral disorder. The dopamine transporter gene (DAT1/SLC6A3) has been considered a good candidate for ADHD. Most association studies with ADHD have investigated the 40-base-pair variable number of tandem repeat (VNTR) polymorphism in the 3'-untranslated region of DAT1. Only few studies have reported association between promoter polymorphisms of the gene and ADHD.

Methods: To investigate the association between the polymorphisms -67A/T (rs2975226) and -839C/T (rs2652511) in promoter region of DAT1 in ADHD, two samples of ADHD patients from the UK (n = 197) and Taiwan (n = 212) were genotyped, and analysed using within-family transmission disequilibrium test (TDT).

Results: A significant association was found between the T allele of promoter polymorphism -67A/T and ADHD in the Taiwanese population (P = 0.001). There was also evidence of preferential transmission of the T allele of -67A/T polymorphism in combined samples from the UK and Taiwan (P = 0.003). No association was detected between the -839C/T polymorphism and ADHD in either of the two populations.

Conclusion: The finding suggests that genetic variation in the promoter region of DAT1 may be a risk factor in the development of ADHD.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Attention Deficit Disorder with Hyperactivity / genetics*
  • Child
  • Child, Preschool
  • Dopamine Plasma Membrane Transport Proteins / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Male
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Risk Factors

Substances

  • Dopamine Plasma Membrane Transport Proteins