Angelim Carolina Cabral, Andrade Álesson Adam Fonseca, de Sousa Renata Santos, Correa Raissa Lima, Sacramento Amanda Roberta Vieira, Martins Letícia Dias, Conde Simone Regina Souza da Silva, Vallinoto Antonio Carlos Rosário, Feitosa Rosimar Neris Martins, Costa Greice de Lemos Cardoso
Laboratory of Human and Medical Genetics, Federal University of Pará, Belém 66073-000, Brazil.
Virology Laboratory, Federal University of Pará, Belém 66073-000, Brazil.
Int J Mol Sci. 2024 Nov 27;25(23):12764. doi: 10.3390/ijms252312764.
The rs12979860 polymorphism, related to the gene, is suggested as a factor that impacts fibrosis progression in hepatitis C virus (HCV) infection and exhibits a wide distribution pattern across global populations. In this retrospective cross-sectional study, we aimed to investigate the frequency of this variant in an Amazonian population from Brazil, as well as its association with liver fibrosis development and its staging in HCV carriers. Our results show a significant association of the TT genotype in the sample of patients with HCV (OR = 2.291; 95% CI = 1.088-4.826; = 0.033) and the greater frequency of the T allele (62.1%), which is similar to the those of African populational groups. Populational genetics analysis showed significant differences in allele frequencies on global levels. The frequency of the C allele in the study population (37.8%) was like that of the African population (39.7%), and differed from all other populations, which ranged from 62.5% to 92.9%. These findings suggest that rs12979860 plays a role in susceptibility to hepatitis C. Additionally, they allow us to propose that the response to hepatitis C infection in this group may resemble that of the African population.
与该基因相关的rs12979860多态性被认为是影响丙型肝炎病毒（HCV）感染中纤维化进展的一个因素，并且在全球人群中呈现出广泛的分布模式。在这项回顾性横断面研究中，我们旨在调查巴西亚马逊地区人群中该变异的频率，以及它与HCV携带者肝纤维化发展及其分期的关联。我们的结果显示，HCV患者样本中TT基因型存在显著关联（OR = 2.291；95% CI = 1.088 - 4.826；P = 0.033），并且T等位基因频率更高（62.1%），这与非洲人群组相似。群体遗传学分析显示全球水平上等位基因频率存在显著差异。研究人群中C等位基因的频率（37.8%）与非洲人群（39.7%）相似，并且与所有其他人群不同，其他人群的该频率范围为62.5%至92.9%。这些发现表明rs12979860在丙型肝炎易感性中起作用。此外，它们使我们能够提出，该组对丙型肝炎感染的反应可能与非洲人群相似。
