Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases
Background: When studying associations of candidate genes with multifactorial diseases, the formation of samples for research is important. One of the factors that should be considered in the formation of samples for genetic-epidemiological research are regional features of the genetic structure of the population. The aim of the study: To study the factors of heterogeneity of the population-genetic structure of the population of southern Central Russia (Belgorod region) and assess their role in the planning of a genetic and epidemiological study of the population. Materials and methods: The genetic structure of the population of the Belgorod region was studied using autosomal DNA markers (8 loci — ApoB eNOS, CCR5, hSERT, D1S80, DAT1, PAH and АСЕ in 620 individuals of 4 districts); immunobiochemical gene markers (12 systems - ACP1, АВО, ESD, RH, HP, GC, PI, C’3, GLO1, PGM1, 6-PGD, TF in 582 individuals of 4 regions); Y-chromosome markers (20 diallel loci of the non-recombining part of the Y-chromosome: M1 (YAP), М9, М17, М46 (Tat), M70, M78, M170, M172, M173, M178, M201, M223, M231, M242, M253, М269, 12F2, Р37, P43, 92R7 and 7 STR markers: DYS385a/b, DYS388, DYS390, DYS391, DYS392, DYS393, DYS19 (DYS394) in 403 individuals of 5 districts) and quasi-genetic markers (48902 names among 822316 people area). The role of migration and the ethnic factor in the formation of the genetic heterogeneity of populations has been evaluated. Results: It has been established that migration and ethnicity are the major factors responsible for the genetic differences in the regional populations of the Central Black Soil Region. An increase in the influx of migrants results in a decrease in the level of division and the formation of heterogeneity of the population and genetic structure of people. The differences between the two ethnic groups of the population of the Belgorod region (Russians and Ukrainians) were revealed in the three alleles of the two systems of classical gene markers (ABO and GC); haplogroup E3b1 and DYS390*24, DYS19*13, DYS19*14 STR Y-chromosome loci. An analysis of genetic relationships has shown that the Russian population of the Belgorod Region is grouped together in an independent cluster, and the Ukrainian population of the region is genetically removed from it. Conclusion: Significant factors of population dynamics that affect the level of genetic diversity of the population are migration and ethnicity. Thus, in the formation of samples for medicogenetic and genetic-epidemiological studies of the population, it is necessary to take into account the place of birth of spouses and nationality.
Sorokina IN, Rudykh NA, Bezmenova IN, et al. Population genetic characteristics and genetic epidemiological research of candidate genes associations with multifactorial diseases. Research Results in Biomedicine. 2018;4(4):20-30 (In Russian). DOI:10.18413/2313-8955-2018-4-4-0-3
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