DOI: 10.25881/20728255_2022_17_2_49

Authors

Rybachkov V.V.1, Khokhlov A.L.1, Sorogin S.A.2, Bereznyak N.V.1

1 Yaroslavl State Medical University, Yaroslavl

2 Yaroslavl Regional Clinical Hospital, Yaroslavl

Abstract

Polymorphic variants of the genes were studied in 50 patients with ulcerative colitis aged 18 to 79 years, 28 men (56%) and 22 women (44%). Age: under 35 years old (38%), from 36 to 50 years old (30%), over 51 years old (32%). According to the length of the pathological process, patients with total colitis prevailed (84%). Patients with left-sided colitis (14%) or proctitis (2%) were less common. 28 patients (56%) had a chronic continuous course, 14 (28%) had a chronic relapsing course, and 8 (16%) had an acute course. According to the severity of attacks: with moderate (42%), mild (28%) and severe (32%) attacks were observed less frequently. Among the studied patients, surgery was performed in 8 patients (16%), the remaining patients (84%) were treated conservatively. Aim: To develop approaches to assess the course and improve the efficiency of predicting ulcerative colitis, taking into account mutations in the genes that regulate tumor necrosis factor (TNFα), vascular endothelial growth factor (VEGFA) and interleukin-6 (IL6). Mutations of the gene encoding interleukin-6 (IL6) for the homozygous G174G variant occurred in 24%, mutations of the gene encoding vascular endothelial growth factor (VEGFA) for the homozygous C634C variant occurred at a frequency of 12%. Mutations in the gene encoding tumor necrosis factor (TNFα) were not found in the study group. Mutations in the IL6 gene are almost equally found among the groups of patients who underwent surgery and patients after conservative treatment, namely, in 25% and 23.8%, respectively. However, mutations in the VEGFA gene were significantly more common (p = 0.04) among patients with a history of surgical treatment (37.5%). Genetic testing in patients with ulcerative colitis makes it possible to predict the effectiveness of therapeutic measures, the risk of surgical treatment, and can be one of the criteria for implementing a personalized approach in this group of patients.

Keywords: ulcerative colitis, treatment, genetic mutation.

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For citation

Rybachkov V.V., Khokhlov A.L., Sorogin S.A., Bereznyak N.V. Clinical significance of genetic testing in patients with ulcerative colitis. Bulletin of Pirogov National Medical & Surgical Center. 2022;2(17):49-51. (In Russ.) https://doi.org/10.25881/20728255_2022_17_2_49