Analysis of the genetic component of addictive disorder in the form of alcohol dependence

Background. Dependent behavior disorders are multifactorial diseases with high heterogeneity and comorbidity. The etiopathogenetic mechanisms of behavioral disorders of the addictive spectrum, with all the breadth of the study, have not been studied enough. Comprehensive genetic studies of addictive pathology using clinical genealogical and molecular genetic methods of research are of interest both scientifically and from a practical point of view, since they contribute to a deep study of the sample and increase the effectiveness of using the data obtained in medical genetic counseling. Aim: to study the genetic component of addictive behavior in the form of alcohol dependence. Methods. The study included 181 probands from two comparison groups: men with alcohol dependence (F10.212; F10.222; n=120) and phenotypically healthy men in the control group (n=61). The clinical and genealogical characteristics of the examined men were studied; a comparative analysis of pedigrees was carried out, taking into account relatives of I, II degrees and both degrees of relationship (n=5068). Genotyping by TaqIA polymorphism at the ANKK1/DRD2 locus (rs1800497) and VNTR polymorphism in the SLC6A3 gene (DAT1) was performed using the PCR. Results. An analysis of the frequency and distribution of alcohol dependence among relatives of I, II and both degrees of relationship of men dependent on alcohol and phenotypically healthy men revealed a high frequency of alcohol dependence with a predominant lesion of males in the pedigrees of men with alcoholism (p<0.001). The frequency of alcohol dependence among the fathers and brothers of addicted probands is 72.5% and 58%, respectively. A statistically significant predominance of the frequency of the ANKK1*A1 allele was revealed in the group of men with the presence of addictive disorder in the form of alcohol dependence compared to the control group (p<0.001). Conclusions. The hereditary burden of alcoholism in the pedigrees of men with alcoholism indicates the presence of a genetic component in the pathogenesis of alcohol dependence and indicates the genetic basis of alcohol dependence as a chemical form of addictive behavior. Carrying the ANKK1*A1 allele seems to be a risk factor for the development of an addictive disorder in the form of alcohol dependence, and ANKK1*A2 has a protective property in this respect.

alcohol addiction, pedigree, hereditary burden, polymorphism, DRD2/ANKK1, rs1800497, SLC6A3, DAT1, rs27072, genetics of behavior, addictions

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