Departamento de Genética e Morfologia, Instituto de Ciências Biológicas, Universidade de Brasília, Brasília, DF, Brazil.
Genet Mol Biol. 2011 Jan;34(1):11-8. doi: 10.1590/S1415-47572010005000102. Epub 2011 Mar 1.
Antioxidants such as superoxide dismutase (SOD), catalase (CAT) and glutathione peroxidase (GPX1) reduce the oxidation rates in the organism. Gluthatione S-transferases (GSTs) play a vital role in phase 2 of biotransformation of many substances. Variation in the expression of these enzymes suggests individual differences for the degree of antioxidant protection and geographical differences in the distribution of these variants. We described the distribution frequency of CAT (21A/T), SOD2 (Ala9Val), GPX1 (Pro198Leu), GSTM1 and GSTT1 polymorphisms in three Brazilian population groups: Kayabi Amerindians (n = 60), Kalunga Afro-descendants (n = 72), and an urban mixed population from Federal District (n = 162). Frequencies of the variants observed in Kalunga (18% to 58%) and Federal District (33% to 63%) were similar to those observed in Euro and Afro-descendants, while in Kayabi (3% to 68%), depending on the marker, frequencies were similar to the ones found in different ethnic groups. Except for SOD2 in all population groups studied here, and for GPX1 in Kalunga, the genotypic distributions were in accordance with Hardy-Weinberg Equilibrium. These data can clarify the contribution of different ethnicities in the formation of mixed populations, such as that of Brazil. Moreover, outcomes will be valuable resources for future functional studies and for genetic studies in specific populations. If these studies are designed to comprehensively explore the role of these genetic polymorphisms in the etiology of human diseases they may help to prevent inconsistent genotype-phenotype associations in pharmacogenetic studies.
抗氧化剂,如超氧化物歧化酶(SOD)、过氧化氢酶(CAT)和谷胱甘肽过氧化物酶(GPX1),可降低机体的氧化速率。谷胱甘肽 S-转移酶(GSTs)在许多物质的生物转化的第二阶段中起着至关重要的作用。这些酶的表达变化表明抗氧化保护的个体差异和这些变体在地理分布上的差异。我们描述了 CAT(21A/T)、SOD2(Ala9Val)、GPX1(Pro198Leu)、GSTM1 和 GSTT1 多态性在三个巴西人群组中的分布频率:Kayabi 美洲印第安人(n = 60)、Kalunga 非裔巴西人(n = 72)和联邦区的城市混合人群(n = 162)。在 Kalunga(18%至 58%)和联邦区(33%至 63%)观察到的变体频率与在欧洲裔和非裔巴西人观察到的频率相似,而在 Kayabi(3%至 68%)中,取决于标记,频率与不同种族群体中发现的频率相似。除了这里研究的所有人群组中的 SOD2 以及 Kalunga 中的 GPX1 之外,基因型分布均符合 Hardy-Weinberg 平衡。这些数据可以阐明不同种族在形成混合人群(如巴西)中的贡献。此外,这些结果将是未来功能研究和特定人群遗传研究的有价值资源。如果这些研究旨在全面探讨这些遗传多态性在人类疾病病因学中的作用,它们可能有助于防止药物遗传学研究中基因型-表型关联不一致。