Background. Miscarriage is relevant medical and social problem, according to WHO its frequency is 20% and has no tendency to decrease, despite effective modern methods of diagnosis and treatment. The aim was to study alleles and single nucleotide polymorphisms (SNP) population frequencies of the coagulation system and cardiovascular system genes, associated with idiopathic recurrent pregnancy loss (iRPL) development as a risk factor in an ethnically homogeneous Kazakh population: MTHFR (C677T, A1298C), MTR (A2756G), MTRR (A66G), F5 (A506G), F2 (G20210A), FGB (G455A), ITGB (Leu33Pro), PLANH1 (5G / 4G); GPIa (C807T), AGTR1 (A1166C), ACE (I / D), eNOS (Glu298Asp). Materials and Methods. The genomic database was analysed based on the results of genotyping of 700 conditionally healthy individuals of Kazakh nationality ~2.5 million SNPs using OmniChip 2.5 M Illumina chips at the DECODE Iceland Genomic Center as part of the joint implementation of the project “Genetic Studies of Preeclampsia in Populations of Central Asia and Europe” (InterPregGen) within the 7th Framework Programme of the European Commission under Grant Agreement No. 282540. Results. The Kazakh population occupies an intermediate position between Europe and Asia populations described in project 1000 genomes by genes of the coagulation and cardiovascular systems. Distribution frequency analysis of the studied genotypes in the Kazakh population showed their correspondence to Hardy-Weinberg equilibrium for the majority of the studied polymorphisms (p>0.05), significant deviations from the expected heterozygosity demonstrated by the polymorphisms A1298C MTHFR gene (p<0.002) and A1166C AGTR1 gene (p<0,0001). Conclusion. Coagulation and cardiovascular systems genes studied polymorphisms can be considered as possible genetic factors for the development of iRPL, due to the high frequency of this pathology in different populations, and its significant contribution to reproduction and fertility indicators. Conduct further studies to determine their significance in the development of iRPL in the Kazakh population.
Galina M. Berezina1, http://orcid.org/0000-0002-5442-4461 Gulnara S. Svyatova1, http://orcid.org/0000-0001-5092-3143 Alexandra V. Murtazaliyeva1, http://orcid.org/0000-0001-9156-5944 Aigul T. Terlikbayeva1, http://orcid.org/0000-0002-1777-805Х Meruert S. Eset1, http://orcid.org/0000-0003-2906-5636 Aigerim T. Sadyrbekova2, http://orcid.org/0000-0003-4487-6816 1 JSC "Scientific Center of Obstetrics, Gynecology and Perinatology", Almaty, the Republic of Kazakhstan; 2 "NJSC "Astana Medical University", Astana, the Republic of Kazakhstan.
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Berezina G.M., Svyatova G.S., Murtazaliyeva A.V., Terlikbayeva A.T., Eset M.S., Sadyrbekova A.T. Population characteristics of genes associated with idiopathic recurrent miscarriage in the Kazakh population // Nauka i Zdravookhranenie [Science & Healthcare]. 2023, (Vol.25) 3, pp. 128-136. doi 10.34689/SH.2023.25.3.017

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