Analysis of ethnic features of polymorphism Iys198asn endothelin-1 gene

Levitsky Sergey Nikolaevich, Sumarokova Alina Vladimirovna, Kurochkina Ekaterina Leonidovna, Bebyakova Natalia Alexandrovna

In this study, the materials on the frequency of occurrence of the endothelin-1(EDN1) polymorphic variant Lys198Asn (rs5370) in various populations and ethnic groups of Russia and the world was conducted. Analysis of Russian and foreign publications, as well as the Al.lete FREquency Database, showed that the distribution of allele frequencies and genotypes of the EDN1 gene by the Lys198Asn polymorphism in practically healthy individuals in different populations of the world varies significantly. The highest frequency of the mutant T allele is recorded in Asian populations, and the lowest - in the populations of South and North America, the average values of the T allele were found in all the studied European populations and in some African populations. In most of the studied populations of Russia, the frequency of this allele was 0.21, both among Russians and among other ethnic groups, and was close to European indicators. The available data on the endothelin-1 gene Lys198Asn polymorphism and its influence on the formation of cardiovascular pathology are few, and was conducted on small groups of subjects, which indicates the need for further study of this polymorphism in large cohorts of subjects, taking into account ethnic characteristics.

Keywords:ethnic genomics, single nucleotide substitutions (SNP), cardiovascular diseases, EDN1 gene polymorphism, allele, genetic marker.