Analysis of the DRD4 Gene Polymorphism in Populations of Russia and Neighboring Countries

S. A. Borinskaya
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia borinskaya@vigg.ru


Zh. M. Kozhekbaeva
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia borinskaya@vigg.ru


E. V. Gorbunova
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054 Bashkortostan, Russia


M. V. Sokolova
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia borinskaya@vigg.ru. Department of Genetics and Breeding, Lomonosov Moscow State University, Moscow, 119899 Russia


E. B. Yur'ev
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054 Bashkortostan, Russia


T. V. Tiazhelova
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia borinskaya@vigg.ru


E. Ya. Grechanina
Kharkov Regional Center of Clinical Genetics and Prenatal Diagnostics, Kharkov, 61072 Ukraine


E. K. Khusnutdinova
Institute of Biochemistry and Genetics, Ufa Scientific Center, Russian Academy of Sciences, Ufa, 450054 Bashkortostan, Russia


N. K. Yankovsky
Vavilov Institute of General Genetics, Russian Academy of Sciences, Moscow, 119991 Russia borinskaya@vigg.ru

Abstract

Allele and genotype frequencies of the VNTR polymorphism in the third exon of human DRD4 gene were determined in 544 individuals living in Russia (Russians, Bashkirs, Tatars, and Mordovians) and in the neighboring countries (Kazakhs and Ukrainians). The data obtained were compared with the allele frequency distribution patterns reported for the populations of Eurasia. Similarly to other Eurasian populations, in our population samples R4 allele was prevalent (64 to 87%). The frequency of this allele in the populations of Western Europe constitute 61 to 71%, while in the populations of Asia it varies from 74 to 96%. In this respect, the populations studied occupied the intermediate position. In the samples examined the R7 allele frequency decreased from 7% in Ukrainians to 1% in Bashkirs, while in Kazakhs and Mordovians the allele was absent. This finding was consistent with the R7 allele distribution pattern in the populations of Eurasia, characterized by higher frequency in the West and lower frequency or absence of the allele in the East. In the group of 22 Eurasian populations, the R7 allele frequency negatively correlated with the frequency of the R4 allele (r = –0.86 at P < 0.001). Unlike the R4 and R7 alleles, the frequency of which changed in the eastward direction, the R2 allele frequency distribution displayed slightly expressed latitudinal increase southwards. The DRD4 genotype distribution deviated from the equilibrium in most of the samples examined. In some samples, statistically significant increase of the R2/R2 homozygotes frequency was demonstrated. One of the possible explanations of this phenomenon is assortative mating with respect to phenotypic (behavioral) allele manifestation. The data obtained can serve as the basis for the investigation of the possible role of the DRD4 alleles as the risk factors for the development of alcoholism and other types of addictions.