Investigação de polimorfismo dos genes NFKB1, TYMS, UCP2 e SGSM3 em pacientes com hepatite C crônica em uma população da região norte do Brasil

Abstract

The hepatitis C virus (HCV) affects about 130-150 million people worldwide. Sex, age, smoking, ethnicity, ancestry, and genetic polymorphisms may interfere with the progression of hepatitis C. We investigated the role of functional polymorphisms in genes NFKB1 (rs28362491), TYMS (rs16430), UCP2 and SGSM3 (rs56228771) with the unfavorable evolution of patients with chronic hepatitis C in a population in the northern region of Brazil. Epidemiological and clinical questionnaires were used to conduct a cross-sectional, observational and descriptive study to investigate polymorphisms. The relationship of these patients with the unfavorable evolution of 75 patients with chronic hepatitis C, in 2 groups (with and without cirrhosis), who underwent outpatient follow-up at two hospitals in Belém-PA, were identified. A panel of 48 Ancestral Information Markers (MIAs) was used as a method of genomic control in the study. It was revealed that the sex, age, smoking, alcoholism and polymorphisms of the TYMS and NFKB1 genes do not present statistical significance, respectively: p = 0.775; p = 0.070; p = 0.404; p = 0.498; p = 0.565 and p = 0.809. However, the polymorphisms of UCP2 and SGSM3 genes and African ancestry presented statistical significance. The 10% increase in African ancestry led to a reduction of 0.571 in the chance of developing cirrhosis of the liver, thus conferring a protective effect (P = 0.0417, OR = 0.429, CI = 95% = 0.170-0.898). The genotype of the polymorphism of the UCP2 gene was associated with a risk reduction (P = 0.05, OR = 0.0003, 95% CI = 0-1.90) and the genotype of the gene polymorphism SGSM3 was associated with significant risk (P = 0.024, OR = 7.106, 95% CI = 1,295-39,007) for developing cirrhosis of the liver. It is concluded that the African ancestry and the polymorphisms of the UCP2 and SGSM3 genes are related to the unfavorable evolution of patients with chronic hepatitis C.