Distribution of alleles and genotypes of the G10976A (rs6046) variant of the F7 gene in ethnic groups living in the Arkhangelsk Region

Background. The existing differences between the gene pools of the peoples of Russia determine the importance of conducting molecular genetic population studies of various genes that determine the determination of various pathological conditions. It is known that the frequency of F7 G10976A (rs6046) allele carriers varies significantly in different global populations. As a result of a single nucleotide substitution in the VII factor gene, the synthesis of proconvertin protein, which is an important component of the second phase of hemostasis, is reduced. Heterozygous carriers of this gene have a protective effect on atherosclerotic processes, while homozygous carriers of the mutation may experience its pathological effects in the form of mild to severe hemorrhagic syndrome.

Aim: analysis of the distribution of allele and genotype frequencies of the G10976A (rs6046) variant of the F7 gene in practically healthy Russians and Indians, volunteers living in the Arkhangelsk Region.

Methods. The study was conducted on samples of ethnic Russians who were natives of the Arkhangelsk Region (n=318) and ethnic Indians who were temporarily residing in the city of Arkhangelsk (n=213). A molecular genetic study of the G10976A single nucleotide substitution in the F7 gene was conducted using real-time PCR, followed by a comparative analysis of the allele frequency distribution of the studied genetic variant in the study groups with the frequencies for various global population groups.

Results. In the group of Russian volunteers, the frequency of allele carriage was as follows: G – 84.7%, A – 15.3%. The frequency of genotypes was as follows: GG – 71.8%, GA – 25.9%, AA – 2.3%. In the group of Indians, the frequency of the G allele was 68.8%, and the frequency of the A allele was 31.2%; the frequencies of genotypes were as follows: GG – 47.3%, GA – 43.0%, AA – 9.7%. Statistically significant differences in the frequency of mutant allele A carriage were revealed between the analyzed groups (p<0.001). When conducting a pairwise comparison of the group of Russians, natives of the Arkhangelsk region, with other global populations, the results were correlated with the data obtained for the European population (p=0.244), in the group of Indians temporarily residing in the territory of Arkhangelsk, – with the data for the South Asian population (p=0.124).

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