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12 号染色体 p13 上的遗传变异与 3 项瑞典病例对照研究中的缺血性脑卒中无关。

Genetic variant on chromosome 12p13 does not show association to ischemic stroke in 3 Swedish case-control studies.

机构信息

Institute of Neuroscience and Physiology, Department of Clinical Neuroscience and Rehabilitation, the Sahlgrenska Academy, SE-413 45 Gothenburg, Sweden.

出版信息

Stroke. 2011 Jan;42(1):214-6. doi: 10.1161/STROKEAHA.110.594010. Epub 2010 Dec 9.

DOI:10.1161/STROKEAHA.110.594010
PMID:21148441
Abstract

BACKGROUND AND PURPOSE

in a genome-wide association study and subsequent case-control studies, the single-nucleotide polymorphism rs12425791 on chromosome 12p13 was reported to be associated with ischemic stroke, but this could not be validated in a recent well-powered study. We therefore investigated whether an association between ischemic stroke and rs12425791 could be detected in 3 different case-control studies from the southwest of Sweden.

METHODS

we examined 3606 patients with ischemic stroke and 2528 controls from 3 independent case-controls studies.

RESULTS

no significant association between ischemic stroke and the single-nucleotide polymorphism rs12425791 was detected in any of the 3 case-control samples or in the samples combined. The odds ratio for ischemic stroke for the minor allele in the combined sample was 1.02 (95% CI, 0.93 to 1.13).

CONCLUSIONS

the single-nucleotide polymorphism rs12425791 does not confer a substantial risk for ischemic stroke in our population. Our results support a recent large study including other European populations.

摘要

背景与目的

在全基因组关联研究及随后的病例对照研究中,位于 12 号染色体 12p13 上的单核苷酸多态性 rs12425791 被报道与缺血性脑卒中相关,但最近一项大型研究未能证实这一关联。因此,我们在瑞典西南部的 3 项不同的病例对照研究中,调查了 rs12425791 与缺血性脑卒中之间是否存在关联。

方法

我们检测了来自 3 项独立病例对照研究的 3606 例缺血性脑卒中患者和 2528 例对照。

结果

在 3 项病例对照样本或合并样本中,均未发现缺血性脑卒中与单核苷酸多态性 rs12425791 之间存在显著关联。合并样本中,缺血性脑卒中患者携带较少等位基因的比值比为 1.02(95%可信区间,0.93 至 1.13)。

结论

在我们的人群中,单核苷酸多态性 rs12425791 并未显著增加缺血性脑卒中的风险。我们的结果支持最近一项包括其他欧洲人群的大型研究。

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