LYS198ASN POLYMORPHISM OF THE EDN1 GENE IN MAN WITH CHRONIC OBSTRUCTIVE PULMONARY DISEASE

Shkarupa V. M., Sierkova V. K., Lilevska А. А.

MEDICAL GENETICS

Scentific article

Chronic obstructive pulmonary disease (COPD) is one of the main problems of theoretical and practical medicine among the diseases of the internal organs. COPD is associated with the high prevalence, nonstop progression and shortening life expectancy of patients. Despite the leading role of environmental factors in the pathogenesis of this pathology, the genetic predisposition to COPD is considered by many researchers to be convincing. Singlenucleotide polymorphisms of the endothelin-1 gene EDN1 are considered as possible genetic markers of endothelial dysfunction. Numerous studies have shown the important role of endothelin-1 in the development of COPD. However, there are only isolated reports of an analysis of the association of EDN1 gene polymorphism with the risk of COPD. The aim of the study was to determine the frequencies of alleles and genotypes of ONP Lys198Asn gene EDN1 in men of Podilsky region of Ukraine with COPD. Object and methods. Genotyping by single nucleotide polymorphisms LYS198ASN of the EDN1 gene was performed in 84 COPD patients (38 had a combination of COPD with coronary heart disease) in men aged 36-70 years, with an average age of 56.4 ± 3.8 years and 50 healthy men by PCR-RT. Results. It was found that the frequencies of the variant allele in the control group and in men with COPD were 0.14 and 0.23, respectively and were not statistically different (p = 0,07). In the COPD group, unlike the control group, genotype distribution was different from the Hardy-Weinberg law (p = 0,03). No significant differences were found in the distribution of genotypes between patients with COPD and controls in the additive, recessive, and dominant models of inheritance. Conclusions. The absence of association of single nucleotide Lys198Asn polymorphisms of the EDN1 gene with the risk of developing COPD in men of Podilskyi region of Ukraine was revealed. The homozygous carrier of the T rs5370 variant allele of the EDN1 gene significantly increases the risk of COPD comorbidity and cardiac pathology.

chronic obstructive pulmonary disease, endothelial dysfunction, Lys198Asn polymorphism.

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«Bulletin of problems biology and medicine» Issue 3 (152), 2019 year, 232-236 pages, index UDK 616.24-055.1:577.21

10.29254/2077-4214-2019-3-152-232-236