Allele distribution and haploblock structure of matrix metalloproteinase gene polymorphism in patients with H. pylori-negative gastric ulcer and duodenal ulcer
Background: One of the important tasks is to study the molecular genetic basis of gastric and duodenal ulcer. This pathology is quite widespread among the population and has an important medical and social significance. The aim of the study: A comparative analysis of the associations of alleles of polymorphism of matrix metalloproteinases genes and haplotypes of polymorphic loci of the gene matrix metalloproteinase 9 with the development of H.pylori-negative gastric and duodenal ulcer. Materials and methods: For this study, a sample of 513 people was formed, including 275 patients with H.pylori-negative gastric ulcer (n=121) and duodenal ulcer (n=79), and 313 individuals of the control group. Genotyping of ten polymorphic loci of matrix metalloproteinases genes was carried out by the method of polymerase chain reaction of DNA synthesis (method of allele discrimination): rs1799750 MMP1, rs243865 MMP2, rs679620 MMP3, rs1940475 MMP8, rs391888242, rs39572689, rs171750. The analysis of associations of alleles and haplotypes with peptic ulcer disease was carried out using the logistic regression method. Haploblocks were built in the Haploview v.4.2 program using the Confidence intervals and Solid Spine algorithms. Results: The development of H.pylori-negative gastric ulcer was associated with polymorphic loci rs3918242 (OR=0.59, pperm=0.034), rs17577 of the MMP9 gene (OR=0.54, pperm=0.025) and the TC haplotype of polymorphic loci rs3918242-rs3918249 (OR=0.56, pperm=0.032) of the MMP9 gene. The occurrence of H.pylori-negative duodenal ulcer disease is associated with the rs679620 polymorphism of the MMP3 gene (OR=0.69, pperm=0.041). The structure of haploblocks of six polymorphic loci of the MMP9 gene in patients with H.pylori-negative gastric and duodenal ulcer differs in comparison with the control group. Conclusion: The polymorphic loci of the MMP9 gene are involved in the development of H.pylori-negative gastric ulcer, and the polymorphism of the MMP-3 gene is associated with the occurrence of H.pylori-negative duodenal ulcer.
Minyaylo ON. Allele distribution and haploblock structure of matrix metalloproteinase gene polymorphism in patients with H. pylori-negative gastric ulcer and duodenal ulcer. Research Results in Biomedicine. 2020;6(4):488-502. Russian. DOI: 10.18413/2658-6533-2020-6-4-0-5
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