Platelet functions in healthy persons with genetic polymorphisms gpia(с807т), gpiiia(т1565с), gpipa(с434т), p2ry12(н1/н2), selp(-g1087a) platelet receptions

Allele and genotype frequencies of 5 polymorphisms were studied in healthy population in Transbaikalian region. High percent of spontaneous and inductive aggregation were observed in subjects with three or more mutant allele (р < 0,05). These subjects developed maximum radius of aggregates only in spontaneous -1,7 ± 0,4 opt.un. (р < 0,05) and collagen-induced aggregation - 7,6 ± 2,5 opt.un. (р < 0,05)

ANALYSIS OF COMPLEX CARRIER STATE OF GENETIC POLYMORPHISMS ASSOCIATED WITH VARIOUS ISCHEMIC STROKE TYPES

Frequencies of genotypes and alleles for 26 polymorphic variants of23 genes were statistically analyzed in 330patients with Ischemic stroke and 200 healthy subjects, matched for age and gender (p > 0,05) after genetic analysis (PCR-Ehf andPCR-Rt). SELP-1087A (OR = 1,6), SELP-1087GA (OR = l,96),SELE-128Pro (OR=2,66),SELE-128SerPro (OR=3,92), ApoC3-3238G (OR = 1,63), ApoC3-3238CG (OR = 1,95) alleles and genotypes were revealed to be associated with the disease independently (p < 0,05). MDR-method showed 2-6 components combinations of genotypes associated with the (non) development of lacunar ischemic stroke (prediction complexes: SELE-128Ser/ProxNOS3-786C/C (OR = 1,6) and PAI-1675/5G/4GxNOS3-786T/T*NOSl-84G/AxVEGF-A-2578A/C (OR = 6,0); protection complex: SELE-128Ser/ SerxNOS3-786C/T, OR=0,09) and atherothrombotic ischemic stroke (prediction complexes: NOSl-84A/AxApoC3- 3238C/C (OR = 3,0) and SELE-128Ser/ProxFRb-455G/AxNOSl-84G/A (OR = 10,0); protection complex: NOS1-84G/ GxApoC3-3238C/C (OR = 0,31))

FREQUENCY OF GENES POLYMORPHISM OF PRO-INFLAMMATORY CYTOKINES IN PATIENTS WITH CHRONIC ISCHEMIA OF CEREBRAL ISCHEMIA IN TRANSBAIKALIAN REGION

The results of research of occurrence of polymorphism of pro-inflammatory cytokines genotypes IL-1b (T-31C), IL-2(T330G), IL-6(C-174G), TNF(G-308A), IL-17A(G-197A), IL-17F (His-166Arg) in 195 patients with chronic cerebral ischemia are presented. The increase of frequency of a carriage of genotypes of IL-1β-31CC, IL-6-174GG, IL17A-197AA, IL17F-166ArgArg, alleles of IL-1β-31C, IL17F-166Arg is established (p < 0,05) in a clinical group

Gene polymorphism associated with risk of development of homocysteine exchange disorders among young healthy women in Transbaikal kray: ethnic and reproductive aspects

The frequency characteristics of gene polymorphisms of MTHFR677T, MTHFR1298C, MTRRA66G that determinate folate metabolism and are associated with perinatal or pregnancy complications were studied in 50 Russian and 50 Buryatyoung healthy women of 19-27 years. The frequency of MTHFR677TT mutant genotype was 6 % (10 % among Russian, 2 % among Buryat women). MTHFR1298CC and MTRR66GG mutant genotypes were detected in 9 % and 31 % respectively without any differences between ethnic groups. Multigenic inheritance of MTHFR677TT and MTH-FR 1298CC, MTHFR677CT and MTRR66AG that multiply increase risks of miscarriage and development of defects of nervous tube of fetus were found only in the group of Russian women (2 %)

Preconception Screening for Gene Polymorphisms Associated with Thrombophilia and Hyperhomocysteinemia Risk in Healthy Young Women

The frequency characteristics of the gene polymorphisms (FVL G1691A, FII G20210A, MTHFR C677T, MTHFR A1298C, MTRR A66G) associated with thrombophilia, hyperhomocysteinemia risk and different perinatal or pregnancy complications were studied. This examination was conducted among 130 planned-pregnancy healthy young women aged between 19 and 29 years. A gene mutation analysis was performed using a real-time polymerase chain reaction (real-time PCR). Factor V Leiden (FVL G1691A) and prothrombin gene (FII G20210A) mutations were not identified in the women surveyed. The frequency of the occurrence of the heterozygous FVL 1691G/A genotype associated with the risk of thrombosis during pregnancy was very low in these women (0.8%). The frequency of the MTHFR (methylenetetrahydrofolate reductase) 1298C/С mutant genotype was 11.5%, MTHFR 677T/Т – 5.4%, and MTRR (methionine synthase reductase) 66G/G – 31.5%. A combination of the MTHFR 677TT/1298CC and MTHFR 677TТ/MTRR 66GG mutant genotypes, which significantly increased the risk of pregnancy loss and neural tube defects, were found to occur in 0.8% of the cases.We concluded that selective thrombophilia screening (FVL G1691A and FII G20210A) based on prior personal and/or family history of venous thromboembolism was more cost-effective than a universal preconception screening in all planning pregnancy women. However, in order to decrease the risk of congenital anomalies and pregnancy complications associated with folate dependent homocysteine metabolism, preconception care should include folate supplementatio

POLYMORPHISM OF CANDIDATE GENES OF HEMOSTASIS DISORDERS IN PREGNANT WOMEN AFTER HAVING А(H1N1)PDM2009 INFLUENZA

We studied polymorphisms of candidate genes of hemostasis disorders in 205 pregnant women after having A(H1N1) pdm2009 influenza during pregnancy and in 75 pregnant women who didn't have acute respiratory viral infections during pregnancy. Pregnant women with influenza were more often carriers of mutant alleles F2, genotypes F7:0976GA and F13:W3G> . Severe course of influenza is associated with genotypes F7:0976GA and PAI-1:4G4G. It was revealed that polymorphisms of genes F7:0976G>A, F13:103G>T and PAI-1:6755G>4G can be molecular predictors of complicated course of A(HlNl)pdm09 influenza in pregnant women

MOLECULAR-GENETIC AND SERUM DISORDERS MARKERS OF FOLATE METABOLISM IN PATIENTS PROLIFERATIVE DISEASE AND BREAST CANCER

Aim: to study the relationship between homocysteine, cysteine and glutathione in blood serum and various single nucleotide polymorphisms (SNPs) of genes involved in folate metabolism in patients with proliferative breast disease and breast cancer. Material and methods. The study included 112 patients with proliferative breast lesions and breast cancer in Transbaikalia. The control group consisted of 144 women having no breast cancer. Blood levels of homocysteine, cysteine and glutathione were evaluated by HPLC (high performance liquid chromatography). Genotyping was performed by polymerase chain reaction with the detection of amplification product in real-time. Results. Molecular-genetic testing revealed no association between breast disease and genetic polymorphisms of MTHFR(C677T), MTHFR(A1298C), MTR(A2756G), MTRR(A66G) in women with proliferative breast lesions and breast cancer, however, in contrast to the control group, the concentrations of homocysteine and glutathione were increased

GENETIC POLYMORPHISMS OF CD14, TNFα AND FCGR2A IN THE PATIENTS WITH INFLUENZA A H1N1 IN TRANSBAIKALIA REGION

Abstract.  Relative  frequencies  of  CD14  C-159T,  TNFα  G-308A  and  FCGR2A  His166Arg  genetic polymorphisms were studied in the patients with pandemic influenza A H1N1 in Transbaikalia Region. We have revealed that prevalences of allelic TNFα G-308A and CD14 C-159T variants were identical among the patients and in control group. With CD14 C-159T polymorphism, a C allele proved to be associated with severe and complicated clinical course of disease. The [CD14 (159СС); FCGR2A (166Arg/Arg)] haplotype regictered in two cases, was associated with fulminant course and fatal outcomes of the disease. (Med. Immunol.,   2011, vol. 13, N 1, pp 83-86

ASSOCIATION OF POLYMORPHISMS GLN192ARG PON1 AND S3238G APOC3 IN WOMEN WITH CORONARY HEART DISEASE AND DIABETES MELLITUS TYPE 2 AND HYPOTHYROIDISM

Objective: to determine the frequency of alleles and genotypes of gene polymorphism PON1 — Gln192Arg A&gt; G and ApoC3 — 3238C&gt; G in women with coronary heart disease (CHD) and diabetes mellitus type 2 (DM 2) and hypothyroidism, to determine the odds ratio (OR) andrelative risk (RR) of CHD depending on the genetic characteristics in this group of patients. Material and Methods: the studied 108 patients with stable angina II-III functional class, 35 of which have a combination of type 2 diabetes and hypothyroidism — 1 comparison group,36 women were with type 2 diabetes — 2 comparison group, 37 women with hypothyroidism — Group 3 comparison. The control group included 42 patients with stable angina II-III functional class without pathology of carbohydrate metabolism and the normal function of the thyroidgland. In addition, to eliminate the influence of hypothyroidism factor 4 comparison group was created (1 + 2 group), to avoid the influence of diabetes factor — 5 comparison group (1 + 3 group). Determined PON1 polymorphisms — Gln192Arg A&gt; G and ApoC3 — 3238C&gt; G bypolymerase chain reaction.Results: in women with coronary heart disease combined with type 2 diabetes is more common homozygous carriers of AA genotype polymorphism Gln192Arg PON1 (p = 0.03 for group 2, P = 0.04 for the 4 groups, respectively), while OR was 9.8 ( 95% CI,1,15-84,8) 2 group and 7.5 (95% CI, 0,9-60,4) for group 4, respectively. OR CHD was 2.11 (95% CI, 1.4-3.0) and 1.54 (95% CI, 1,2-1,95) 2 and group 4, respectively. In patients with coronary artery disease combined with type 2 diabetes showed more frequent carriers of the allele C (p = 0.02) and CG genotype polymorphism S3238G APOC3 (p = 0.01). OR 2 groups was 2.8 (95% CI, 1,0-7,8) for 4 groups — 2.7 (95% CI, 1,18-6,4). OR for CHD patients 4 groups was 1.5 (95% CI, 1,0-2,3).Conclusion: the association of genotype polymorphisms Gln192Arg PON1 and S3238G APOC3 in women with coronary heart disease in the background with type 2 diabetes. The presence of the homozygous genotype PON1-AA increases the risk of coronary heart disease in women with type 2 diabetes by 1.5-2 times, carriage heterozygous genotype ApoC3-CG increases the risk of coronary heart disease 1.5 times. Association of polymorphisms with hypothyroidism submitted against the background of coronary heart disease has been identified