TNF-α 基因启动子功能多态性在汉族和维吾尔族人群缺血性脑卒中发病风险中的作用：两项病例对照研究。
The role of functional polymorphisms of the TNF-alpha gene promoter in the risk of ischemic stroke in Chinese Han and Uyghur populations: Two case-control studies.
机构信息
Department of Social Medicine and Health Management, Key Lab of Chronic Diseases Prevention, Institute of Social Medicine, School of Public Health, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, PR China.
出版信息
Clin Chim Acta. 2010 Sep 6;411(17-18):1291-5. doi: 10.1016/j.cca.2010.05.007. Epub 2010 May 19.
BACKGROUND
Increasing evidences for the role of tumor necrosis factor-alpha (TNF-alpha) in the occurrence of ischemic stroke (IS) have shown that it belongs to pro-inflammatory cytokines and carries functional polymorphisms (TNF-alpha -238G/A and TNF-alpha -308G/A) in its promoter region, which affect their transcription rate and plasma cytokine level. We determined the association between these polymorphisms and the occurrence of IS in the Chinese Han and Uyghur populations.
METHODS
The TNF-alpha -238G/A and TNF-alpha -308G/A polymorphisms were determined by TaqMan SNP Genotyping assays in cases (n=748) and controls (n=748). Multivariate logistic regression analysis was used to show the association between the TNF-alpha genotypes and the IS events.
RESULTS
No significant difference was found in the association between TNF-alpha -238G/A and IS in both ethnic populations. The result showed that carriage of the TNF-alpha -308GA was a decreased risk of IS in both Han and Uyghur populations (OR:0.453, 0.213). In addition, the significant difference in GA frequency in TNF-alpha was found between the two ethnic controls (P=0.000).
CONCLUSIONS
TNF-alpha -308 GA heterozygous may be an independent protective factor for IS in the Chinese Han and Uyghur populations.
背景
越来越多的证据表明肿瘤坏死因子-α（TNF-α）在缺血性中风（IS）的发生中起作用，它属于促炎细胞因子，在其启动子区域具有功能性多态性（TNF-α-238G/A 和 TNF-α-308G/A），这会影响其转录率和血浆细胞因子水平。我们确定了这些多态性与汉族和维吾尔族人群 IS 发生之间的关系。
方法
采用 TaqMan SNP 基因分型检测法检测 TNF-α-238G/A 和 TNF-α-308G/A 多态性，病例组（n=748）和对照组（n=748）。多变量 logistic 回归分析显示 TNF-α 基因型与 IS 事件之间的关联。
结果
TNF-α-238G/A 与两种民族人群 IS 之间无明显关联。结果表明，TNF-α-308GA 携带可降低汉族和维吾尔族人群 IS 的风险（OR：0.453，0.213）。此外，两种民族对照者 TNF-α 中 GA 频率存在显著差异（P=0.000）。
结论
TNF-α-308GA 杂合可能是汉族和维吾尔族人群 IS 的独立保护因素。
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