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载脂蛋白A1-C3-A5基因簇启动子多态性与中国北方汉族人群缺血性脑卒中风险的关联

The association between apolipoprotein A1-C3-A5 gene cluster promoter polymorphisms and risk of ischemic stroke in the northern Chinese Han population.

作者信息

Wang Yanzhe, Liu Fang, Li Lei, Deng Shumin, He Zhiyi

机构信息

Department of Neurology, The First Affiliated Hospital of China Medical University, Shenyang, Liaoning, China.

出版信息

J Int Med Res. 2017 Dec;45(6):2042-2052. doi: 10.1177/0300060517713517. Epub 2017 Jun 21.

Abstract

Objective Given its effects on lipid metabolism, the apolipoprotein A1-C3-A5 ( APOA1-C3-A5) gene cluster is thought to play an important role in ischemic stroke pathogenesis. Here, we evaluated whether the APOA1-C3-A5 cluster is associated with ischemic stroke in the northern Chinese Han population. Methods This case-control study analyzed 812 patients with ischemic stroke and 844 healthy controls with regard to four APOA1-C3-A5 cluster promoter single nucleotide polymorphisms (SNPs), rs670, rs2854116, rs2854117, and rs662799, using the SNaPshot Multiplex sequencing assay. Potential associations among ischemic stroke, genotyping, and allele frequencies were assessed. Results APOA1 rs670 CT/TT genotypes, APOA5 rs662799 AG/GG genotypes, and the APOC3 rs2854116 CC genotype were associated with an increased risk of ischemic stroke according to multivariate logistic analysis after adjusting for confounding factors. A significantly increased risk for ischemic stroke was also identified among high-risk haplotypes (C-C-T-A and T-T-C-A) for rs670-rs2854116-rs2854117-rs662799. Conclusion This study showed that rs670, rs2854116, and rs662799 SNPs of the APOA1-C3-A5 cluster are associated with ischemic stroke in the northern Chinese Han population.

摘要

目的 鉴于载脂蛋白A1-C3-A5(APOA1-C3-A5)基因簇对脂质代谢的影响,其被认为在缺血性脑卒中发病机制中起重要作用。在此,我们评估了APOA1-C3-A5基因簇是否与中国北方汉族人群的缺血性脑卒中相关。方法 本病例对照研究采用SNaPshot多重测序分析法,分析了812例缺血性脑卒中患者和844例健康对照者的4个APOA1-C3-A5基因簇启动子单核苷酸多态性(SNP),即rs670、rs2854116、rs2854117和rs662799。评估了缺血性脑卒中、基因分型和等位基因频率之间的潜在关联。结果 根据调整混杂因素后的多因素逻辑分析,APOA1 rs670 CT/TT基因型、APOA5 rs662799 AG/GG基因型和APOC3 rs2854116 CC基因型与缺血性脑卒中风险增加相关。对于rs670-rs2854116-rs2854117-rs662799的高危单倍型(C-C-T-A和T-T-C-A),缺血性脑卒中风险也显著增加。结论 本研究表明,APOA1-C3-A5基因簇的rs670、rs2854116和rs662799 SNPs与中国北方汉族人群的缺血性脑卒中相关。

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