Programa de Pós-Graduação em Agentes Infecciosos e Parasitários, Laboratório de Genética Humana e Médica, Federal University of Pará, Belém 66073-000, PA, Brazil.
Programa de Pós-Graduação em Virologia, Instituto Evandro Chagas, Ananindeua 67030-000, PA, Brazil.
Genes (Basel). 2023 Nov 14;14(11):2075. doi: 10.3390/genes14112075.
Since the discovery of the polymorphic nature of the gene, its variants have been investigated and associated with several viral diseases, with an emphasis on hepatitis C. However, the impacts of these variants on mixed-race and native populations in the northern region of Brazil are scarce. We investigated three variants of the gene in populations from this location, which were among the 14 most frequent variants in worldwide populations, and compared the frequencies obtained to populational data from the 1000 Genomes Project, gnomAD and ABraOM databases. Our results demonstrate that mixed-race and native populations from the northern region of Brazil present frequencies like those of European and Asian groups for the rs74597329 and rs11322783 variants, and like all populations presented for the rs4803221 variant. These data reinforce the role of world populations in shaping the genetic profile of Brazilian populations, indicate patterns of illness according to the expressed genotype, and infer an individual predisposition to certain diseases.
自该基因的多态性被发现以来,其变体已被广泛研究,并与多种病毒性疾病相关联,其中尤以丙型肝炎为甚。然而,这些变体对巴西北部的混血和本地人群的影响却鲜有报道。我们研究了来自该地区人群中该基因的三个变体,这些变体是全球人群中最常见的 14 种变体之一,并将获得的频率与 1000 基因组计划、gnomAD 和 ABraOM 数据库中的人群数据进行了比较。我们的研究结果表明,巴西北部的混血和本地人群的 rs74597329 和 rs11322783 变体的频率与欧洲和亚洲群体相似,而 rs4803221 变体的频率与所有群体相似。这些数据进一步证实了世界人口在塑造巴西人口遗传特征方面的作用,根据所表达的基因型指示疾病模式,并推断出个体对某些疾病的易感性。