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9p21 染色体上的序列变异与中国汉族人群的缺血性中风和血脂水平有关。

Sequence variants on chromosome 9p21 are associated with ischemic stroke and the lipids level in Chinese Han population.

机构信息

Department of Neurology, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, China.

Department of Geriatrics, Peking University Shenzhen Hospital, Shenzhen, Guangdong Province, China.

出版信息

J Stroke Cerebrovasc Dis. 2015 Apr;24(4):894-900. doi: 10.1016/j.jstrokecerebrovasdis.2014.12.020. Epub 2015 Feb 25.

DOI:10.1016/j.jstrokecerebrovasdis.2014.12.020
PMID:25724239
Abstract

BACKGROUND

Several studies have demonstrated that variants on chromosome 9p21 confer susceptibility to ischemic stroke (IS) disease. But, the results of variants' roles in Chinese IS population are blank or inconsistent.

METHODS

We performed a case-control analysis in 116 patients with IS and 118 non-IS controls of Han background to determine whether 4 single nucleotide polymorphisms were associated with IS. DNA was extracted from saliva using a magnetic nanoparticles-based method.

RESULTS

After we adjusted for clinical parameters, we found that the rs10757278-GG genotype conveyed 1.88-fold (95% confidence interval [CI], 1.1-3.1; P = .015), the rs1537378-C allele conveyed 2.0-fold (95% CI, 1.2-3.5; P = .008), and the rs1333047-TT genotype conveyed 1.64-fold (95% CI, 1.02-2.6; P = .041) increased risk of IS, respectively. In addition, there is a significant difference of the lipids level between GG genotype compared with that of AA genotype in rs10757278 (P < .05).

CONCLUSIONS

This study is the first one to demonstrate that the rs10757278-GG genotype, the rs1537378-C allele, and rs1333047-TT genotype are associated with IS in Chinese Han populations. More importantly, the variant of rs10757278 may have different degrees of influence on lipids level.

摘要

背景

多项研究表明,9p21 染色体上的变异与缺血性中风(IS)疾病的易感性相关。但是,在中国 IS 人群中,变异体作用的研究结果尚属空白或不一致。

方法

我们对 116 名 IS 患者和 118 名汉族背景的非 IS 对照进行了病例对照分析,以确定 4 个单核苷酸多态性是否与 IS 相关。使用基于磁性纳米粒子的方法从唾液中提取 DNA。

结果

在调整临床参数后,我们发现 rs10757278-GG 基因型使 IS 风险增加 1.88 倍(95%置信区间 [CI],1.1-3.1;P =.015),rs1537378-C 等位基因使 IS 风险增加 2.0 倍(95% CI,1.2-3.5;P =.008),rs1333047-TT 基因型使 IS 风险增加 1.64 倍(95% CI,1.02-2.6;P =.041)。此外,rs10757278 中 GG 基因型与 AA 基因型之间的血脂水平存在显著差异(P<.05)。

结论

本研究首次证明 rs10757278-GG 基因型、rs1537378-C 等位基因和 rs1333047-TT 基因型与中国汉族人群的 IS 相关。更重要的是,rs10757278 的变异可能对血脂水平有不同程度的影响。

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