Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations.
Polymorphism analysis of six selenoprotein genes: support for a selective sweep at the glutathione peroxidase 1 locus (3p21) in Asian populations.
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DOI：
10.1186/1471-2156-7-56
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发表时间：
2006-12-11
期刊：
影响因子：
2.9
通讯作者：
Peters U
中科院分区：
文献类型：
--
作者：
Foster CB;Aswath K;Chanock SJ;McKay HF;Peters U
至少有25种人类硒蛋白，每种蛋白的特征在于硒作为氨基酸硒代半胱氨酸掺入一级序列中。由于许多硒蛋白具有抗氧化特性，因此硒蛋白表达或活性的个体间差异可能会影响一系列复杂疾病的风险，例如癌症，传染病以及对氧化应激源（如香烟烟雾）的有害反应。捕获6个重要硒蛋白基因的常见遗传变异（GPX 1、GPX 2、GPX 3、GPX 4、TXNRD 1和SEPP 1），对这些基因进行了重新测序分析，特别关注的是编码区，内含子-外显子边界和侧翼的非翻译区（UTR）的每个基因在102个单独的人口代表4个主要的种族群体内发现在美国。对于5个基因，根据中性平衡进化模型的预期，没有强有力的证据表明选择;然而，在GPX 1位点（3 p21）有正选择的证据。国际人类基因组单体型图项目的数据为亚洲人群基因组区域3 p21最近的阳性选择提供了强有力的确证性证据。本报告中描述的SNP和精细单倍型图将是未来功能研究的宝贵资源，用于人口特异性遗传研究，旨在全面探索硒蛋白遗传变异在各种人类疾病病因学中的作用，并确定最近在GPX 1位点附近进行选择性扫描的力量。
There are at least 25 human selenoproteins, each characterized by the incorporation of selenium into the primary sequence as the amino acid selenocysteine. Since many selenoproteins have antioxidant properties, it is plausible that inter-individual differences in selenoprotein expression or activity could influence risk for a range of complex diseases, such as cancer, infectious diseases as well as deleterious responses to oxidative stressors like cigarette smoke. To capture the common genetic variants for 6 important selenoprotein genes (GPX1, GPX2, GPX3, GPX4, TXNRD1, and SEPP1) known to contribute to antioxidant host defenses, a re-sequence analysis was conducted across these genes with particular interest directed at the coding regions, intron-exon borders and flanking untranslated regions (UTR) for each gene in an 102 individual population representative of 4 major ethnic groups found within the United States. For 5 of the genes there was no strong evidence for selection according to the expectations of the neutral equilibrium model of evolution; however, at the GPX1 locus (3p21) there was evidence for positive selection. Strong confirmatory evidence for recent positive selection at the genomic region 3p21 in Asian populations is provided by data from the International HapMap project. The SNPs and fine haplotype maps described in this report will be valuable resources for future functional studies, for population specific genetic studies designed to comprehensively explore the role of selenoprotein genetic variants in the etiology of various human diseases, and to define the forces responsible for a recent selective sweep in the vicinity of the GPX1 locus.
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