Dopamine transporter DAT1 (SLC6A3) and alcohol metabolizing enzymes ADH1B, CYP2E1 gene polymorphism: association with alcohol dependence in Yakut population
Abstract
The allele and genotype distribution of two alcohol metabolizing enzymes ADH1B*Arg47His and CYP2E1 Pst I (G/C) as well as the exon 9 1342 A/G and variable number of tandem repeats (VNTR) polymorpHisms in the 3 ‘-untranslated region (3’-UTR) of the dopamine transporter DAT1 (SLC6A3) gene were investigated in three Yakut populations in comparison with Yakut alcoholics men. The three Yakut populations were combined in total population control group. Genotype frequencies of all four examined loci obeyed the Hardy-Weinberg equilibrium both in control and in patient groups. No associations in allele frequencies of two alcohol metabolizing enzymes with alcoholism in Yakuts were revealed. Almost significant association (р = 0,055) of A/G and significant association of VNTR (р = 0,015) polymorphisms in DAT1 gene with alcoholism in Yakut population were found. In the same time, moderate LD between these two loci was observed in patients, but not in the control group. The haplotypes contributing to alcoholism susceptibility (“Х_G”; р = 0,013) and protective with the respect to the disease (“Х_A”; р = 0,043) were revealed, where X denotes any allele except those with 10 repeat copies.
About the Authors
A. V. Marusin
ГУ НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
N. R. Maksimova
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
N. P. Matveeva
ЯНЦ КМП СО РАМН
Russian Federation
Russian Federation
M. G. Spiridonova
ГУ НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
V. A. Stepanov
ГУ НИИ медицинской генетики СО РАМН
Russian Federation
Russian Federation
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Review
For citations:
Marusin A.V., Maksimova N.R., Matveeva N.P., Spiridonova M.G., Stepanov V.A. Dopamine transporter DAT1 (SLC6A3) and alcohol metabolizing enzymes ADH1B, CYP2E1 gene polymorphism: association with alcohol dependence in Yakut population. Yakut Medical Journal. 2009;(2):148-150. (In Russ.)
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