Analysis of F2, F5 and MTHFR genes SNPs allelic vari ants in population of G20210A SNP, GG (96.5 %), GA (3.5 %) for F5 gene G1691A SNP and CC (49.5 %), CT (43 %), TT (7.5 %)

Aim. The study is aimed at the evaluation of the association of IL6 gene -174G/C polymorphism and ESR1 gene -397C/T polymorphism with recurrent pregnancy loss (RPL) pathogenesis and at the investigation of the ESR1 gene -397C/T variant regulatory significance for the IL6 gene function. Methods. A case group of 75 women with RPL history and a control group of 106 unrelated healthy women, who have given birth to at least one child conceived in natural way, were genotyped by a PCR based restriction fragment length polymorphism assay. Results. There was no significant difference in IL6 -174G/C or ESR1 -397C/T genotype and allele frequencies between the case and control groups. Combined genotype distribution analysis showed significantly (p < 0.05) lower frequency of individuals homozygous for both IL6 -174G and ESR1 -397C alleles in case group (0.026) comparing to control (0.094). Conclusions. Genotype comprising IL6 -174G and ESR1 -397C alleles in homozygous state may be considered as a genetic marker of successful pregnancy maintenance during gestation early stages

To study the association of polymorphisms of the enzymes genes CYP1A1 (T6235C), first phase, and NAT2 (Ñ481Ò, G590A, G857A), GSTM1 («0»), GSTT1 («0») and GSTP1 (A313G), second phase of the detoxication system, as well as the ADRB2 (C79G) gene variants with the development of bronchial asthma in children. Methods. Polymorphic variants were analyzed using PCR followed by RFLP analysis in 86 healthy individuals and in 114 patients with clinical diagnosis of bronchial asthma. Results. The frequency of gene polymorphic variants of the enzymes of first and second phases of detoxification system as well as the ADRB2 gene was established in the children with bronchial asthma and healthy individuals. Conclusions. Ðolymorphic variants of the genes NAT2 (481Ò), GSTP1 (313G) and ADRB2 (79G) and their combinations in genotype were observed more frequently in the patients with bronchial asthma comparing to the control group, which indicates their involvement in the pathogenesis of asthma in children

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