Abstract

In the Republic of Sakha (Yakutia), persistently high incidence rates of CVH remain, as well as mortality rates from complications of liver cirrhosis (LC), as the most common complication. It seems relevant to search for genetic predictors of early development of severe complications in CVH patients in the Yakut population. They can be polymorphic variants of the genes for endothelial dysfunction and oxidative stress NOS3 and CYBA. The collection of representative material was carried out on the basis of the Infectious Diseases Department of the State Budgetary Institution of the Republic of Sakha (Yakutia) of the Yakut Republican Clinical Hospital. In total, 47 DNA samples of patients with chronic viral hepatitis В and liver cirrhosis in its outcome, hospitalized in the Infectious Diseases Department from September 2020 to June 2021, were studied. The control group consisted of patients not infected with viral hepatitis, as well as without pathology of the hemostasis system. The experimental part of the study was carried out by real-time PCR with the melting of hybridization products with a fluorescent label, followed by analysis of the RealBest-Genetics melting curves. As a result of the PCR-RFLP analysis of the rs1799983 polymorphism of the NOS3 gene among patients with chronic viral hepatitis, the T allele frequency was 0.09, and the G allele frequency was 0.91. The frequency of the C allele of the rs2070744 polymorphism of the NOS3 gene was 0.05, the frequency of the T allele was 0.95. The frequency of occurrence of the major allele C of the rs4673 polymorphism of the CYBA gene was 0.78, the minor allele T was 0.22. The relationship between the carriage of polymorphisms of these genes and the disease was not found. However, it was found that carriers of the mutant allele for the rs1799983 polymorphism of the NOS3 gene were 1.81 times more likely to develop liver cirrhosis (95 % CI, odds in the groups 0.176–0.098), carriers of the mutant allele for the rs4673 polymorphism of the CYBA gene were more likely to develop cirrhosis liver cirrhosis is 1.9 times higher (95 % CI, odds in groups 0.211–0.111), in carriers of the mutant allele for the rs2070744 polymorphism of the NOS3 gene, the probability of developing liver cirrhosis is 2.03 times higher (95 % CI, odds in groups 0.181–0.089 ). In carriers of the mutant allele for the rs4673 polymorphism of the CYBA gene, shortening of PT and APTT (17.79 ± 10.26 and 35.13 ± 7.82 sec) is observed, which may indicate a greater tendency of this group to hypercoagulability. In carriers of the mutant allele for the rs2070744 polymorphism of the NOS3 gene, shortening of PT and APTT (11.56 ± 0.99 and 30.12 ± 4.45 sec) is observed, which may also indicate a greater tendency of this group to hypercoagulability.

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