Unfavorable clinic course of ulcerative colitis: Risk assessment with determining gene polymorphism of tumor necrosis factor alpha

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Y.I. Tretyakova1, A.P. Shchekotova1, I.A. Bulatova1, A.V. Krivtsov2


1 Perm State Medical University named after Academician E.A. Wagner, 26 Petropavlovskaya Str., Perm, 614000, Russian Federation
2 Federal Scientific Center for Medical and Preventive Health Risk Management Technologies, 82 Monastyrskaya Str., Perm, 614045, Russian Federation


The research goal was to assess functional significance that belonged to TNF-α gene polymorphism in the region -308G/A (rs1800629) in ulcerative colitis development.

The authors examined 70 patients with ulcerative colitis when the disease was in its active phase and 50 healthy donors. They focused on TNF-α concentration in blood serum and TNF-α gene polymorphism in the region -308G/А.

It was detected that TNF-α level was authentically higher in patients who suffered from grave ulcerative colitis and had high endoscopic activity than in people with low endoscopic activity and milder forms of the disease. It allows to apply these tests as additional non-invasive markers to assess apparent damages done to the mucous tunic in the large intestine in a patient suffering from ulcerative colitis. Frequency of allele variations in TNF-α gene -308G/A (rs1800629) was assessed; the assessment revealed that unfavorable homozygote AA significantly more frequently occurred in patients with ulcerative colitis than in donors. Besides, ulcerative colitis might be accompanied with different endoscopic activity; the major allele G and the allele pair GG significantly more frequently occurred among patients with mild and average disease attack and 1–2 degree of endoscopic activity than among patients with 3-4 degree of endoscopic activity and grave ulcerative colitis (χ2=14.19; p=0.000). The authors also detected a mutant allele A and the unfavorable homozygote AA associated with grave progressive ulcerative colitis. Mutant allele occurrence causes 5 times higher risk that a patient will have to face the disease in its grave form (OR 5.03; CI 12.07-12.21).

Therefore, risks related to unfavorable clinical course of ulcerative colitis with frequent recurrences and fast progressing are associated with the allele A of TNF-α gene in the region -308G/A. It should be taken into account when making forecasts on the clinical course o f the disease and choosing treatment strategies.

damages to the mucous tunic in the large intestine, ulcerative colitis, TNF-α, gene polymorphism, assessment of gene variations occurrence, TNF-α, degree of attack severity, endoscopic activity
Tretyakova Yu.I., Shchekotova A.P., Bulatova I.A., Krivtsov A.V. Unfavorable clinic course of ulcerative colitis: risk as-sessment with determining gene polymorphism of tumor necrosis factor alpha. Health Risk Analysis, 2019, no. 2, pp. 138–144. DOI: 10.21668/health.risk/2019.2.16.eng
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