Polymorphism in folate cycle genes in patients with gout in the Russian population of Trans-Baikal territory

Objective. To study the frequency distribution of genotypes and alleles of polymorphic loci of folate cycle genes (MTHFR C677T, MTHFR A1298G, MTR A2756G, MTRR A66G) in patients with gout and to evaluate their association with the risk of the disease.Material and Methods. 80 patients (69 men and 11 women) with gout were examined. The diagnosis of gout was made according to the classification criteria ACR/EULAR, 2015. DNA isolated from white blood cells of whole peripheral blood was the material used in the genetic analyses. All patients were genotyped to detect polymorphisms of the MTHFR C677T, MTHFR A1298G, MTR A2756G, MTRR A66G gene loci. Statistical data processing was performed using the software package Statistica 10.0.Results. Genetic polymorphisms of the MTHFR C677T and MTR A2756G genes are involved in the development of gout in individuals of Russian ethnicity in the population of the Trans-Baikal Territory. Minor T allele (χ2 = 4.65, p = 0.03, OR = 1.83, CI95% = 1.05-3.17) and the T/T genotype (χ2 = 6.5, p = 0.01, OR = 5.94, CI95% = 1.3-27.00) of the C677T locus of the MTHFR gene, minor G allele (χ2 = 6.46, p = 0.01, OR = 2.38, CI95% = 1.2-4.69) and the A/G genotype of the MTR A2756G gene (χ2 = 5.78, p = 0.01, OR = 2.66, CI95% = 1.18-5.98 ) were identified as alleles and genotypes having increased risk for developing gout. While the C allele (χ2 = 4.65, p = 0.03, OR = 0.55, CI95% = 0.31-0.94) of the MTHFR C677T gene, and allele A (χ2 = 6.46, p = 0.01, OR = 0.42, CI95% = 0.21-0.83) and genotype A/A (χ2 = 7.58, p = 0.006, OR = 0.33, CI95% = 0.15-0.74) of the A2756G locus of the MTR gene were determined as genotypes and alleles having a protective effect.Conclusion. Significant differences were found in the frequency distribution of genotypes and alleles of the MTHFR C677T and MTR A2756G genes in gout patients compared with the control group. The presence of minor T allele and the T/T genotype of MTHFR C677T gene, the minor G allele and the A/G genotype of MTR A2756G gene was associated with an increased risk of gout. In contrast, the carriage of the C allele of MTHFR C677T gene, allele A and the genotype A/A of MTR A2756G gene had a potentially protective effect.