Полиморфизм генов липидного обмена в некоторых популяциях Южной и Восточной Сибири

Lipid metabolism disorders underlie the pathogenesis of a number of diseases. Indigenous peoples of Siberia have a specific genetically determined type of metabolism supporting such lipid blood parameters that favor increased consumption (in comparison with Caucasians) of animal products. At the same time, indigenous Siberian ethnic groups are less susceptible to metabolic diseases. The objective of the presented study was to investigate the allele frequencies of lipid metabolism genes in indigenous populations of Siberia to identify the ethnic features of allele frequency distribution for polymorphic variants in genes  CETP  ( G1264A , rs5882),  LPL  ( C1791G , rs328) and  FTO  ( C83401A , rs8050136) in the samples taken from Buryats, Teleuts and Russians of Eastern Siberia, and to compare them with data on world populations. Samples of the Eastern ( N  = 132) and Western ( N  = 278) Buryats, Teleuts ( N  = 120), Russians ( N  = 122) and persons of mixed Buryat-Russian origin ( N  = 56) were genotyped by real-time PCR using competitive TaqMan-probes. The obtained results have for the first time demonstrated that the  CETP  and  FTO  allele frequencies in the Buryat samples are intermediate between European and East Asian populations. Significantly lower incidence of the obesity-assossiated  83401A  allele of the  FTO  gene has been shown in Buryats, compared with Russians, which is consistent with lower susceptibility of the indigenous ethnic groups to metabolic disorders. There have been no population differences in the distribution of  LPL  gene polymorphic variants associated with dyslipidemia, which means they probably do not contribute to the ethnic characteristics of the lipid profile. The intermediate frequencies of the  CETP 1264G  and  FTO 83401A  alleles found in the metis group demonstrate that the metabolic disorders associated with these variants can be rather expected in the descendants of mixed marriages than among Buryats. It has also been demonstrated that Teleuts differ by  FTO 83401A  allele frequency from some of the European groups and have the lowest detected frequency of the allele  CETP 1264G  associated with the favorable lipid blood parameters.