巴西人群中炎症基因的遗传变异性。
Genetic variability of inflammatory genes in the Brazilian population.
作者信息
dos Santos Marcelo, Stur Elaine, Maia Lucas Lima, Agostini Lidiane Pignaton, Peterle Gabriela Tonini, Mendes Suzanny Oliveira, Tajara Eloiza Helena, de Carvalho Marcos Brasilino, Louro Iúri Drumond, Silva-Conforti Adriana Madeira Álvares
机构信息
1 Programa de Pós Graduação em Biotecnologia, Universidade Federal do Espírito Santo , Vitória, Espírito Santo, Brazil .
出版信息
Genet Test Mol Biomarkers. 2013 Nov;17(11):844-8. doi: 10.1089/gtmb.2013.0264. Epub 2013 Aug 3.
Inflammatory gene variants have been associated with several diseases, including cancer, diabetes, vascular diseases, neurodegenerative diseases, arthritis, and others. Therefore, determining the population genetic composition of inflammation-related genes can be useful for the determination of general risk, prognostic and therapeutic strategies to prevent or cure specific diseases. We have aimed to identify polymorphism genotype frequencies in genes related to the inflammatory response in the Brazilian population, namely, IκBL -62AT, IκBL -262CT, tumor necrosis factors alpha (TNFa) -238GA, TNFa -308GA, lymphotoxin-alpha (LTa) +80AC, LTa +252AG, FAS -670AG, and FASL -844TC, considering the white, black, and Pardo ethnicities of the São Paulo State. Our results suggest that the Brazilian population is under a miscegenation process at the current time, since some genotypes are not in the Hardy-Weinberg equilibrium. In addition, we conclude that the Pardo ethnicity is derived from a complex mixture of ethnicities, including the native Indian population.
炎症基因变异与多种疾病相关，包括癌症、糖尿病、血管疾病、神经退行性疾病、关节炎等。因此，确定炎症相关基因的群体遗传组成对于确定预防或治疗特定疾病的总体风险、预后和治疗策略可能是有用的。我们旨在确定巴西人群中与炎症反应相关基因的多态性基因型频率，即IκBL -62AT、IκBL -262CT、肿瘤坏死因子α（TNFa）-238GA、TNFa -308GA、淋巴毒素-α（LTa）+80AC、LTa +252AG、FAS -670AG和FASL -844TC，研究对象为圣保罗州的白人、黑人和帕尔多人种。我们的结果表明，巴西人群目前正处于混血过程中，因为一些基因型不符合哈迪-温伯格平衡。此外，我们得出结论，帕尔多人种源自包括本土印第安人群体在内的多种族复杂混合。
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