Search

The study involved 522 women of Russian nationality living in Kemerovo oblast of Russia, including 273 patients with lung cancer and 249 women of a similar age with no signs of cancer. Comparative analysis of polymorphic variants of DNA repair genes APEX1 444T>G (rs1130409), XRCC1 1839G>A (rs25489), hOGG1 977C>G (rs1052133), XPD 2251Т>G (rs13181), XPG 3310G>C (rs17655), and XPC 2815A>C (rs2228001) in patients with lung cancer and individuals without cancer living in the same area was performed. Analysis of single-locus effects showed significant associations between the risk of lung cancer and variants of the XPC 2815A>C gene (rs2228001) (OR = 0.56, CI: 0.39–0.81, p = 0.0018) in the general group, the APEX1 444T>G gene (rs1130409) (OR = 0.15, CI: 0.03–0.67, p = 0.0027) in the group of smokers, and genes XPC 2815A>C (rs2228001) (OR = 0.36, CI: 0.18–0.69, p = 0.0051) and hOGG1 977C>G (rs1052133) (OR = 0.57, CI: 0.38–0.85, p = 0.0055) in the group of nonsmokers. MDR analysis of gene-gene interactions showed that genes XPD 2251Т>G and XPC 2815A>C, APEX1 444T>G, and XPD 2251Т>G closely interact and mutually increase the risk of lung cancer in women of Western Siberia. [ABSTRACT FROM AUTHOR]

The frequencies of the polymorphic gene variants MnSOD AlaVal, GPX1 ProLeu, and GSTP1 IleVal were estimated in female residents of Altai krai with breast cancer. The frequency distributions of the genotypes for all genes studied in both patients and control subjects fit the Hardy-Weinberg equilibrium. The estimated frequencies of the genotypes for the studied genes in the control group did not differ from those earlier reported for Caucasoid women living in Europe. The T (rs1050450) allele of the GPX1 gene was demonstrated to protect against sporadic breast cancer (OR = 0.74 (95% CI = 0.58−0.94), p = 0.012). Carriers of the genotype combination MnSOD CC + GPX1 CC were found to have a 1.6 times higher risk of sporadic breast cancer compared to the control group (OR = 1.59 (1.05−2.41), p = 0.0258). The polymorphic loci GSTP1 (rs1695) and MnSOD (rs4880) were not found to be significantly associated with the risk of familial or sporadic breast cancer. [ABSTRACT FROM AUTHOR]

Breast cancer is one of the most widely distributed cancers in women. We investigated the role of allele variants in the folate metabolizing genes MTHFR (C677T and A1298C alleles), SHMT1 (C1420T allele), and MTHFD (G1258A allele) as a possible factor in predisposition to breast cancer. We determined allele and genotype frequencies of single nucleotide polymorphisms (SNPs) in the case (850 women with sporadic form of breast cancer) and control (810 healthy women) groups. None of the polymorphisms were significantly associated with breast cancer risk. To increase the statistical power of our study, we conducted a meta-analysis which included published genotype data and the results of our work. The meta-analysis revealed no significant association between the studied SNPs and breast cancer risks either. [ABSTRACT FROM AUTHOR]

Objective: The aim of the study is to assess changes in heart structure and function associated with heavy alcohol use by comparing echocardiographic indices in a population-based sample to those in patients admitted to an inpatient facility with severe alcohol problems., Methods and Results: We used data from the Know Your Heart study (2015-2017) which is a cross-sectional study that recruited 2479 participants aged 35-69 years from the general population of the city of Arkhangelsk in Northwest Russia and 278 patients from the Arkhangelsk Regional Psychiatric Hospital with a primary diagnosis related to chronic alcohol use (narcology clinic subsample). The drinking patterns of the population-based sample were characterised in detail. We used regression models controlling for age, sex, smoking, education and waist to hip ratio to evaluate the differences in echocardiographic indices in participants with different drinking patterns. The means of left ventricular end-diastolic diameter and indexed left atrial systolic diameter were increased among heavy drinkers (narcology clinic subsample), while mean left ventricular ejection fraction was decreased in this group compared with the population-based sample. In contrast, the harmful and hazardous drinkers in the population-based sample did not differ from non-problem drinkers with respect to echocardiographic indices of systolic and diastolic function., Conclusions: Extremely heavy drinking is associated with a specific set of structural and functional abnormalities of the heart that may be regarded as precursors of alcohol-related dilated cardiomyopathy., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY. Published by BMJ.)

Aim To evaluate changes in left ventricular (LV) systolic function by LV myocardial global longitudinal strain (GLS) and global strain rate (GSR) in patients with arterial hypertension (AH) and based on the effectiveness of blood pressure (BP) control in a Russian population sample of individuals older than 55 years.Materials and methods This cross-sectional study was a population-based cohort study (HAPIEE, Novosibirsk). LV myocardial GLS and GSR were studied by echocardiography in a random sample (n=1004, 55-84 years). Statistical analysis was performed with multivariate models of logistic regression.Results AH prevalence in the study sample was 78.4 %. Mean GLS was 19.1 % (SD, 4.07), which was less for men than for women (p=0.001). Mean GSR was 0.86 s-1 (SD, 0.19) and was not different between men and women. In individuals with AH, the GLS absolute value was lower than in normotensive people (18.8 %; SD, 4.04 vs. 20.2 %; SD, 4.03, p˂0.001); these differences remained irrespective of the age, gender, body weight index (BWI) (p=0.027), and LV mass index (p=0.05). When people with AH were divided into groups, the lowest GLS absolute values were observed among "ineffectively treated" or not receiving any therapy individuals (p<0.001 vs. normotensive group). AH 1.6 times increased the risk of LV GLS decrease. In individuals with AH, the GSR absolute value was lower than in normotensive people (- 0.85 s-1 (SD, 0.19) vs.- 0.92 s-1 (SD, 0.18), p<0.001); this difference remained in multivariate models. The lowest GSR absolute values were observed in the "ineffectively treated" group irrespective of the gender, age, and BWI (p=0.036 vs. normotensive group). AH doubled the risk of LV GSR decrease, which could be partially explained by the contribution of BWI and myocardial mass index.Conclusion In this population sample, LV GLS and GSR were independently associated with AH. The lowest GLS and GSR values were observed for ineffectively treated" individuals with AH, which may reflect an early decline of LV systolic function with inadequate control of AH.

Heredity plays an important role in the etiology of varicose veins (VVs). However, the genetic basis underlying this condition remains poorly understood. Our aim was to replicate top association signals from genome-wide association studies (GWASs) for VVs of lower extremities using 2 independent datasets-our sample of ethnic Russian individuals (709 cases and 278 controls) and a large cohort of British residents from UK Biobank (10 861 cases and 397 594 controls). Associations of polymorphisms rs11121615, rs6712038, rs507666, rs966562, rs7111987, rs6062618, and rs6905288 were validated in the UK Biobank individuals at a Bonferroni-corrected significance level. In Russian cohort, only rs11121615 reached a nominal significance level of P < .05. Results of original GWAS and replication studies were combined by a meta-analysis, and polymorphisms listed above as well as rs111434909 and rs4463578 passed a genome-wide significant threshold. Notably, the majority of these polymorphisms were located within or near genes involved in vascular development and remodeling, and regulation of inflammatory response. Our results confirm the role of these polymorphisms in genetic susceptibility to VVs and indicate the revealed genomic regions as good candidates for further fine-mapping studies and functional analysis. Moreover, our findings implicate inflammation and abnormal vascular architecture in VVs pathogenesis., (© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Inflammation was shown to be activated in varicose veins, although its role in the development of vein wall transformation remains inconclusive. We aimed to investigate the influence of 13 inflammation-related single nucleotide polymorphisms (SNPs) TNF rs1800629 and rs3093661, IL1A rs1800587, IL1RN rs4251961, IL6 rs1800795 and rs1800796, IFNG rs2430561, IL10 rs1800896, TGFB1 rs1800469, HIF1A rs11549465, NFKB1 rs28362491, and rs4648068 on the risk of primary varicose veins (PVVs) in ethnic Russians. We genotyped 709 patients with PVVs and 278 individuals without a history of chronic venous disease and performed a single SNP and a haplotype analysis. Several associations with P < 0.05 were revealed in our study. Variant allele HIF1A rs11549465 T, TNF rs3093661 A, and NFKB1 rs28362491 ATTG deletion showed the reverse association with PVV risk, and allele IL6 rs1800795 C was associated with the increased risk of the studied pathology. Haplotype analysis revealed associations of TNF haplotypes rs3093661 A-rs1800629 G and IL6 rs1800795 C-rs1800796 G with the decreased and the increased risk of PVVs, correspondingly. However, all the observed associations failed to reach statistical significance after the correction for multiple testing, which was set at a level of 10 -3 due to many tests performed. Our study therefore provides evidence that investigated polymorphisms do not play a major role in susceptibility to PVVs.

Two hundred and twenty eight ethnic Russian individuals from Moscow, Russia, were genotyped at 14 single nucleotide polymorphisms CCL2 A-2578G; VEGFA C-2578A, G-634C, and C+936T; TNF G+419A and G-308A; IL1A G-889A; IL1RN T+1018C; IL6G-174C and G-572C; IFNG T+874A; IL1B C-511T; IL10 A+1082G; TGFB1 C-509T. Genotypes were determined using real-time polymerase chain reaction with TaqMan probes and polymerase chain reaction followed by melting analysis of dual-labeled probe. Genotype distribution was in accordance with Hardy-Weinberg equilibrium for all studied polymorphisms. Genotype data are available in the Allele Frequencies Net Database under identifier AFND 3367 and the population name "Russia Moscow Cytokine"., (Copyright © 2016 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.)