The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk for Ischemic Stroke: A Case-Control Study
The Single Nucleotide Polymorphism rs2208454 Confers an Increased Risk for Ischemic Stroke: A Case-Control Study
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DOI：
10.1111/cns.12298
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发表时间：
2014-10-01
影响因子：
5.5
通讯作者：
Sheng, Wen-Li
中科院分区：
文献类型：
--
作者：
Luo, Man;Li, Jiao-Xing;Sheng, Wen-Li
目的：最近的全基因组关联研究发现，隐匿性磁共振成像脑梗塞与单核苷酸多态(SNP)rs2208454有很强的相关性。这项研究的目的是确定rs2208454基因多态是否与缺血性中风(IS)风险增加相关。方法：来自中国南方汉族人群的712例缺血性卒中患者和774例正常对照。采用快照技术进行基因分型。结果：与GT+GG或GG等位基因相比，IS组TT基因频率显著高于对照组。在调整了年龄、性别、IS家族史、高血压病史和糖尿病史后，TT基因型与IS之间存在显著相关性(TT与GT+GG：调整后OR=1.79，95%CI：1.16~2.77；TT与GG：调整后OR=1.88，95%CI：1.20~2.94)。在亚组分析中，rs2208454 SNP与大动脉粥样硬化(LAA)显著相关(TT与GG：调整后OR=2.16，95%CI：1.19~3.93)，但与小动脉闭塞或心源性栓塞亚型无关。结论：单核苷酸多态rs2208454在中国南方汉族人群中增加了IS的风险。当检测IS亚型时，SNP的作用仅限于LAA。
Aim: A recent genome-wide association study identified a strong association of covert magnetic resonance imaging infarcts with the single nucleotide polymorphism (SNP) rs2208454. The aim of this study was to determine whether the rs2208454 polymorphism is associated with an increased risk for ischemic stroke (IS). Methods: Ischemic stroke patients (n = 712) and control subjects (n = 774) from a southern Chinese Han population were included. The snapshot technique was used for genotype analysis. Results: Compared with the GT+GG or GG genotype, the frequency of the TT genotype was significantly higher in IS than in controls. After adjusting for age, gender, family history of IS, hypertension history, and history of diabetes mellitus, a significant correlation between the TT genotype and IS persisted (TT vs. GT+GG: adjusted OR = 1.79, 95% CI: 1.16-2.77; TT vs. GG: adjusted OR = 1.88, 95% CI: 1.20-2.94). In subgroup analyses, SNP rs2208454 was significantly associated with large artery atherosclerosis (LAA) (TT vs. GG: adjusted OR = 2.16, 95% CI: 1.19-3.93), but failed to show significant association with small-artery occlusion or cardio-embolism IS subtypes. Conclusions: Single nucleotide polymorphism rs2208454 confers an increased risk for IS in a southern Chinese Han population. When the IS subtype was examined, the effect of the SNP was restricted to LAA.