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

Xiaohui Xu; Mill, Jonathan; Bo Sun; Chih-Ken Chen; Yu-Shu Huang; Yu-Yu Wu; Asherson, Philip
January 2009
BMC Psychiatry;2009, Vol. 9, Special section p1
Academic Journal
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.


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