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Common variants within oxidative phosphorylation genes influence risk of ischemic stroke and intracerebral hemorrhage.常见的氧化磷酸化基因变异与缺血性卒中和脑出血的风险相关。
Stroke. 2013 Mar;44(3):612-9. doi: 10.1161/STROKEAHA.112.672089. Epub 2013 Jan 29.
3
Genetic heritability of ischemic stroke and the contribution of previously reported candidate gene and genomewide associations.遗传性缺血性脑卒中及既往报道候选基因和全基因组关联研究的贡献。
Stroke. 2012 Dec;43(12):3161-7. doi: 10.1161/STROKEAHA.112.665760. Epub 2012 Oct 4.
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Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.缺血性卒中及其亚型的遗传风险因素(METASTROKE 协作研究):全基因组关联研究的荟萃分析。
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Heterozygote genotypes at rs2222823 and rs2811712 SNP loci are associated with cerebral small vessel disease in Han Chinese population.rs2222823 和 rs2811712 SNP 位点的杂合基因型与汉族人群的脑小血管病有关。
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No association between a common single nucleotide polymorphism, rs4141463, in the MACROD2 gene and autism spectrum disorder.MACROD2 基因中常见的单核苷酸多态性 rs4141463 与自闭症谱系障碍无关。
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单核苷酸多态性rs2208454增加缺血性中风风险:一项病例对照研究。

The single nucleotide polymorphism rs2208454 confers an increased risk for ischemic stroke: a case-control study.

作者信息

Luo Man, Li Jiao-Xing, Sun Xun-Sha, Lai Rong, Wang Yu-Fang, Xu Xiao-Wei, Sheng Wen-Li

机构信息

Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, China; Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, China.

出版信息

CNS Neurosci Ther. 2014 Oct;20(10):893-7. doi: 10.1111/cns.12298. Epub 2014 Jun 21.

DOI:10.1111/cns.12298
PMID:24954375
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6493025/
Abstract

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 cardioembolism 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.

摘要

目的

最近一项全基因组关联研究发现,隐匿性磁共振成像梗死与单核苷酸多态性(SNP)rs2208454之间存在强关联。本研究旨在确定rs2208454多态性是否与缺血性卒中(IS)风险增加相关。

方法

纳入来自中国南方汉族人群的缺血性卒中患者(n = 712)和对照者(n = 774)。采用快速检测技术进行基因型分析。

结果

与GT+GG或GG基因型相比,TT基因型在IS患者中的频率显著高于对照组。在调整年龄、性别、IS家族史、高血压病史和糖尿病史后,TT基因型与IS之间仍存在显著相关性(TT与GT+GG比较:调整后的比值比[OR]=1.79,95%可信区间[CI]:1.16-2.77;TT与GG比较:调整后的OR = 1.88,95%CI:1.20-2.94)。在亚组分析中,SNP rs2208454与大动脉粥样硬化(LAA)显著相关(TT与GG比较:调整后的OR = 2.16,95%CI:1.19-3.93),但与小动脉闭塞或心源性栓塞性IS亚型无显著关联。

结论

单核苷酸多态性rs2208454使中国南方汉族人群发生IS的风险增加。在对IS亚型进行检查时,该SNP的作用仅限于LAA。