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整合素α6的多态性与韩国人群脑出血的发生及神经症状有关。

Polymorphisms of integrin, alpha 6 contribute to the development and neurologic symptoms of intracerebral hemorrhage in korean population.

作者信息

Park Hyun-Kyung, Jo Dae Jean

机构信息

Department of Emergency Medicine, Kyung Hee University Hospital at Gangdong, School of Medicine, Kyung Hee University, Seoul, Korea.

出版信息

J Korean Neurosurg Soc. 2011 Oct;50(4):293-8. doi: 10.3340/jkns.2011.50.4.293. Epub 2011 Oct 31.

Abstract

OBJECTIVE

The extracellular matrix (ECM) and cell adhesion molecules play crucial roles in angiogenesis, apoptosis, thrombosis, and inflammation, and also contribute to the pathogenesis of stroke. Integrin, alpha 6 (ITGA6) is a member of ECM adhesion receptors. We investigated whether two single nucleotide polymorphisms (SNPs) (rs11895564, Ala380Thr; rs2293649, Asp694Asp) of ITGA6 were associated with the development and clinical phenotypes of intracerebral hemorrhage (ICH) and ischemic stroke (IS).

METHODS

We enrolled 199 stroke (78 ICH and 121 IS) and 291 control subjects. Stroke patients were divided into subgroups according to the scores of the National Institutes of Health Stroke Survey (NIHSS, <6 and ≥6) and Modified Barthel Index (MBI, <60 and ≥60). SNPStats, SNPAnalyzer, and Helixtree programs were used to calculate odds ratios, 95% confidence intervals, and p values. Multiple logistic regression models were used to analyze genetic data.

RESULTS

A missense SNP rs11895564 was associated with the development of ICH (p=0.026 in codominant2, p=0.013 in recessive, p=0.02 in log-additive models; p=0.041 in allele distributions). The A allele frequency of rs11895564 was higher in the ICH group (13.5%) than in the control group (8.1%). In the clinical phenotypes, rs11895564 and rs2293649 showed significant associations in the MBI scores of IS (p=0.014 in codominant1 model; p=0.02 in allele distributions) and NIHSS scores of ICH (p=0.017 in codominant2, p=0.035 in recessive, p=0.035 in log-additive models), respectively.

CONCLUSION

These results suggest that ITGA6 may be associated with the development and clinical phenotypes of stroke in Korean population.

摘要

目的

细胞外基质(ECM)和细胞黏附分子在血管生成、细胞凋亡、血栓形成及炎症中发挥关键作用,且与中风的发病机制相关。整合素α6(ITGA6)是ECM黏附受体的成员之一。我们研究了ITGA6的两个单核苷酸多态性(SNP)(rs11895564,丙氨酸380苏氨酸;rs2293649,天冬氨酸694天冬氨酸)是否与脑出血(ICH)和缺血性中风(IS)的发生及临床表型相关。

方法

我们纳入了199例中风患者(78例ICH和121例IS)及291例对照受试者。中风患者根据美国国立卫生研究院卒中量表(NIHSS,<6分和≥6分)及改良巴氏指数(MBI,<60分和≥60分)的评分分为亚组。使用SNPStats、SNPAnalyzer和Helixtree程序计算比值比、95%置信区间和p值。采用多元逻辑回归模型分析遗传数据。

结果

一个错义SNP rs11895564与ICH的发生相关(共显性2模型中p=0.026,隐性模型中p=0.013,对数加性模型中p=0.02;等位基因分布中p=0.041)。rs11895564的A等位基因频率在ICH组(13.5%)高于对照组(8.1%)。在临床表型方面,rs11895564和rs2293649分别在IS的MBI评分(共显性1模型中p=0.014;等位基因分布中p=0.02)和ICH的NIHSS评分(共显性2模型中p=0.017,隐性模型中p=0.035,对数加性模型中p=0.035)中显示出显著相关性。

结论

这些结果表明,在韩国人群中,ITGA6可能与中风的发生及临床表型相关。

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