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DOI: 10.18413/2658-6533-2020-6-2-0-5

Association of RS12328675 COBLL1 polymorphism with coronary heart disease and intermediate phenotypes of atherosclerosis: validation study in Central Russia

Background: It is known that the development of coronary heart disease (CHD) as a polygenic multifactorial pathology is determined by a complex interaction between genetic and environmental factors. The results of genetic research allow us to speak about a wide range of polymorphic variants of genes – the so-called single-nucleotide polymorphisms (SNP), which contribute to the pathogenesis of CHD in various populations of the world. The aim of the study: To analyze the association of the polymorphic variant rs12328675 of the COBLL1 gene with lipid metabolism parameters and the thickness of the carotid intima-media complex, and the risk of developing coronary heart disease (CHD) in Central Russia. Materials and methods: The material for the study was genomic DNA samples from the Biobank Of the research Institute of genetic and molecular epidemiology of Kursk State Medical University (N=1340), obtained from 719 patients with IHD and 621 relatively healthy volunteers. Results: It was found that the rs12328675-C/C genotype of the COBLL1 gene was associated with an increased risk of CHD, while the rs12328675-T/C genotype, on the contrary, was associated with a reduced risk of developing the disease (P=0,004). SNP rs12328675 of the COBLL1 gene was statistically significantly associated with the level of total blood cholesterol (P=0,028, overdomination effect). This polymorphism was also associated with the thickness of the intima-media complex of the carotid arteries (P=0,009, additive effect). Bioinformatic analysis allowed us to characterize the functional significance of the COBLL1 gene SNP rs12328675. In particular, by binding various transcription factors, the expression of the COBLL1 gene in the heart muscle and coronary arteries can be modulated, which may have pathogenetic significance for the development of coronary heart disease. Conclusion: As a result, it was found that the inhabitants of Central Russia have the polymorphic variant rs12328675 of the COBLL1 gene associated with the development of coronary heart disease, as well as with the thickness of the carotid intima-media complex TIM and total blood cholesterol.

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