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Analysis of polymorphic variants of genes of the dopaminergic system of the brain in patients with alcoholism

https://doi.org/10.25557/2073-7998.2020.11.31-38

Abstract

Addictive disorders are multifactorial diseases with clinical, genetic and neurophysiological heterogeneity and high comorbidity with other disorders of the mental spectrum. The decisive influence on the phenotypic dispersion of disorders of behavior of a dependent nature belongs to the genotype. Polymorphic variants of genes of the neurotransmitter systems of the brain that encode proteins involved in the regulation of effector reactions and the metabolism of psychoactive substances can be considered as markers of behavioral patterns and an individual predisposition to dependent behavior. Genotyping by TaqIA polymorphism at the ANKK1/DRD2 locus (rs1800497) and VNTR polymorphism in the SLC6A3 gene (DAT1) was performed using the PCR. A statistically significant predominance of the frequency of the ANKK1*A1 allele and the ANKK1*A1A2 genotype was revealed in the group of men with the presence of addictive disorder in the form of alcohol dependence compared to phenotypically healthy representatives of the control group (p <0.001). The frequency of *A2 and genotype *A2A2 were statistically significantly lower in the study group than in the control. The ANKK1*A1 allele is a risk factor for the development of alcohol dependence (RR=4.69; EF=0.15) with a moderate linkage (j=0.21), and ANKK1*A2 has a protective property (RR=0.84; PF=0.79). The data obtained indicate the possibility of using genotyping of the genes of the dopaminergic system of the brain to assess an individual predisposition to alcohol dependence - in carriers of *A1 of the DRD2/ANKK1 gene, the risk of dependence formation is 4.69 higher than homozygotes in the *A2 variant.

About the Authors

T. M. Rozhnova
I. M. Sechenov First Moscow State Medical University (Sechenov University)
Russian Federation


V. A. Spitsyn
Research Centre for Medical Genetics
Russian Federation


S. V. Makarov
Research Centre for Medical Genetics
Russian Federation


S. V. Kostyuk
I. M. Sechenov First Moscow State Medical University (Sechenov University); Research Centre for Medical Genetics
Russian Federation


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Review

For citations:


Rozhnova T.M., Spitsyn V.A., Makarov S.V., Kostyuk S.V. Analysis of polymorphic variants of genes of the dopaminergic system of the brain in patients with alcoholism. Medical Genetics. 2020;19(11):31-38. (In Russ.) https://doi.org/10.25557/2073-7998.2020.11.31-38

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