Polymorphisms of the promote region of the TNFA gene and their two-locus haplotypes in patients with ulcerative colitis russian population of the Chelyabinsk region

The results of the study on the distribution of frequency of occurrence of allelic variants, genotypes and haplotypes of polymorphisms of the gene TNFA-1031T/C, –863C/A, –308G/A, –238G/A in patients with nonspecifi c ulcerative colitis of the Russian population of the Chelyabinsk region are presented. Genotyping of the TNFA promoter region was carried out by polymorphism of restriction fragment lengths followed by detection by horizontal electrophoresis in 3% agarose gel. In the group of patients with UC, an increase in the frequency of occurrence of the TNFA-238*A allele, the heterozygous genotype of TNFA-238GA, the homozygous genotype from the ancestral allele –863CC, the two-locus haplotypes TNFA-863*CTNFA- 238*A, TNFA-308*G-TNFA-238*A, TNFA-238*A-TNFA-1031*C was found. In the group of patients carriers of heterozygous genotype TNFA-863C/A, homozygous genotype TNFA-238GG, two-locus haplotypes TNFA-308*G-TNFA-238*G, TNFA-238*G-TNFA-1031*C were less common. Inherited models for the following polymorphic sites of the TNFA gene have been identifi ed: a superdominant model is characteristic of TNFA-863C/A, and codominant – for TNFA-238G/A. The obtained data indicate that polymorphism –238G/A TNFA is signifi cant for the for development of predisposition to ulcerative colitis.