Authors
Rybachkov V.V., Khokhlov A.L., Tsareva I.N., Pugachev A.N., Pugacheva E.V.
Yaroslavl State Medical University, Yaroslavl
Abstract
Rationale: The influence of genetic factors on the clinical manifestations of perianal fistulas has not been studied so far and requires further investigation.
Aims: to study the clinical significance of polymorphic variants of TNFA G308A, IL 1b T31C, IL4 C589T, IL10 G1082A and C592A genes in blood samples from patients with perianal fistulas.
Materials and methods: A study of gene polymorphism was conducted in 71 patients with anal and rectal fistulas aged 24 to 74 years who were undergoing outpatient treatment by a proctologist. Diagnosis was based on clinical data, instrumental examination results, as well as confirmed during surgical intervention. Genetic testing was conducted in 2023–2024.
Results: In the study group, the prevalence of homozygous gene mutation was 22.5% for variant T31C of the IL1b gene, 5.6% for variant C589T of the IL4 gene, 36.6% for variant G1082 of the IL10 gene, 9.9% for variant C592A of the IL10 gene, and 1.4% for variant G308A of the TNFa gene.
Conclusions: The results of the study showed that the IL1b T31C gene mutation, the frequency of which increases with age, is associated with an increased risk of developing pararectal fistulas. This relationship can be traced in the older age group of men and women.The probability of developing pararectal fistulas after early paraproctitis increases with an increase in the frequency of mutations in the IL1b T31C, IL10 G1082A and C592A genes. After surgery, the recurrence of the pararectal fistula develops with an increase in the frequency of mutations of the IL1b T31C and IL10 C592A genes to 40% and 20%, respectively.
Keywords: perianal fistula, clinical course, genetic polymorphism, TNF, IL-1β, IL-4, IL-10.
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