Polymorphism of the C-509 gene of TGFB1 and the risk of obliterative atherosclerosis of lower limb arteries

Abstract

Genetic factors play an important role in the development of obliterative atherosclerosis of arteries in the lower extremities. There are numerous data in the literature on polymorphic variants of the TGFB1 gene associated with the risk of development of cardiovascular diseases, but some of them are contradictory. The present study aimed at elucidating the role ofpolymorphism of509C/T genes of TGFB1 in the development of obliterative atherosclerosis in arteries of the lower extremities. The material included 328 samples of DNA from 203 unrelated subjects of Russian ethnicity residing in Central Russia (177 men and 23 women) with obliterative atherosclerosis of arteries in the lower extremities hospitalized to the Dpt. of Vascular Surgery and 125 age-matched controls. Genotyping of polymorphism of the C-509T (rs1800469) gene of TGFB1 was performed by the PCR-PDRF method with the use of oligonucleotide primers (Sintol Co., Moscow). The patients with obliterative atherosclerosis showed an increased frequency of the occurrence of alternative allele of the C-509T gene of TGFB1 in comparison with control subjects (r=0,0001). Simultaneously, the frequency of homozygous genotypes of wild-type alleles of -509CC decreased (OR=0,58, 95%CI=0,37-0,92, P=0,02) while the frequency of homozygotes with an alternative allele -509TT increased (OR=4,93, 95%CI=5,20-11,03, P=0,00004). The difference in the frequency of heterozygotes 509CT was absent (OR=0,81, 95%CI=0,52-1,27, P=0,35). Thus, polymorphism of the C-509T gene of TGFB1 is a significant predictor ofpredisposition to the development of obliterative atherosclerosis in arteries of the lower extremities.