Background. Imbalance in the system of redox homeostasis is an important link in the pathogenesis of type 2 diabetes (T2D). Gamma-glutamyl cyclotransferase is an antioxidant defense enzyme directly involved in the metabolism of glutathione, an endogenous antioxidant. The aim of the study was to examine the association of single nucleotide polymorphisms (SNP) rs38420 (GA), rs4270 (TC), rs6462210 (CT) and rs28679 (GA) in GGCT gene with the risk of developing T2D. Materials and Methods. The study included 1022 T2D patients and 1064 healthy volunteers. Genotyping of GGCT gene loci was performed using iPLEX technology on a MassArray Analyzer 4 genome time-of-flight mass spectrometer (Agena Bioscience). Results. As a result, we identified for the first time the association of SNP rs4270 in the GGCT gene with the risk of T2D in the Russian population. We have also established genetic and environmental interactions associated with predisposition to the disease: protective effect of gamma-glutamyl cyclotransferase gene was observed only in non-smokers under condition of daily consumption of fresh vegetables and fruits, whereas in persons with insufficient consumption of plant foods, as well as in all smoking patients protective effect of GGCT was not observed. In patients with T2D, the level of hydrogen peroxide and glutathione monomer was sharply increased compared to the controls. SNP rs4270 was also found to be associated with elevated levels of reduced glutathione in the plasma of type 2 diabetics. Conclusion. Thus, for the first time it was established that polymorphic locus rs4270 in the GGCT gene is associated with a predisposition to T2D, but its relationship with the disease is modulated by smoking and fresh plant foods consumption.

The objective of this study was to examine associations of single nucleotide polymorphisms, rs1045642 within the MDR1 gene and rs1799930 within the NAT2 gene, with the risk of colorectal cancer (CRC) in the population of Central Russia. DNA specimens were obtained from 178 patients with CRC (87 males and 91 females) and 327 age-matched healthy controls (179 males and 148 females). Genotyping was performed using real-time PCR. Association of the studied SNPs with the risk of CRC was evaluated using logistic regression analysis. It was demonstrated that MDR1 rs1045642 polymorphism was associated with the increased risk of CRC after correction for gender, age, and smoking (OR = 1.41, 95% CI = 1.09-1.83; P = 0.008). A gender-stratified analysis showed that MDR1 rs1045642 was associated with the increased risk of CRC only in females (OR = 1.62, 95% CI = 1.11-2.35; P = 0.01). In males, no association between MDR1 rs1045642 and CRC was found. Association between MDR1 rs1045642 and the increased risk of colorectal cancer in Russian females from Central Russia was revealed.

We studied the relationship between lipoprotein lipase (LPL) gene HindIII polymorphism and the development of acute pancreatitis in the Russian population. Whole blood samples were collected from 145 patients with acute non-biliary pancreatitis and 191 healthy individuals. Genotyping of LPL gene HindIII (rs320) polymorphism was performed by PCR with TaqMan assay. It was found that allele H+ (OR=0.63, 95%CI 0.41-0.96, p=0.03) and genotype H+/H+ (OR=1.79, 95%CI 1.06-3.04, p=0.03) were associated with the risk of acute non-biliary pancreatitis only in males. In this study, the relationship between HindIII polymorphism of LPL gene with the risk of acute non-biliary pancreatitis was revealed.

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