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全基因组关联研究报告的位于HABP2附近的变异rs11196288与中国汉族人群缺血性中风的关联

Association of GWAS-Reported Variant rs11196288 near HABP2 with Ischemic Stroke in Chinese Han Population.

作者信息

Li Shao-Hua, Shi Chang-He, Li Yu-Sheng, Li Fang, Tang Mi-Bo, Liu Xin-Jing, Zhang Shuo, Wang Zhi-Lei, Song Bo, Xu Yu-Ming

机构信息

Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, 1 Jian-she east road, Zhengzhou, Henan, 450052, China.

出版信息

J Mol Neurosci. 2017 Jun;62(2):209-214. doi: 10.1007/s12031-017-0925-x. Epub 2017 May 13.

Abstract

A recent genome-wide association analysis identified a novel single nucleotide polymorphism locus on chromosome 10q25.3 (rs11196288, near HABP2) associated with the risk of early-onset ischemic stroke (IS) in European population, but not with late-onset IS. However, the role of this genome-wide association study (GWAS)-reported variant in ischemic stroke in Chinese Han population remained unknown. In our study, 389 adult ischemic stroke patients with an age of onset <60 years and 389 matched healthy controls were enrolled to investigate association of rs11196288 genotypes with early-onset ischemic stroke and its subtypes; the association was further examined in another independent population consisting of 349 ischemic stroke patients with an age of onset ≧60 years and 349 matched healthy individuals. Logistic regression analysis showed no significant association between rs11196288 and early-onset ischemic stroke (IS), large artery atherosclerotic (LAA) stroke, or small vessel disease (SVD) stroke (all P > 0.050). Nevertheless, in subgroup analysis of the older population, rs11196288 presented significant effect on late-onset SVD stroke susceptibility in the dominant model (GG/GA vs AA, OR 1.70; 95%CI 1.02 to 2.85; P = 0.042). The results indicated that the role of rs11196288 polymorphism in ischemic stroke susceptibility in Chinese Han population may be different from that in European. Larger studies with diverse populations are warranted to confirm and extend our findings.

摘要

最近一项全基因组关联分析在欧洲人群中发现了一个位于10号染色体q25.3区域的新型单核苷酸多态性位点(rs11196288,靠近HABP2),其与早发性缺血性卒中(IS)风险相关,但与晚发性IS无关。然而,该全基因组关联研究(GWAS)报道的变异在中国汉族人群缺血性卒中中的作用尚不清楚。在我们的研究中,纳入了389例年龄<60岁的成年缺血性卒中患者和389例匹配的健康对照,以研究rs11196288基因型与早发性缺血性卒中和其亚型的关联;在另一个独立人群中进一步检验了这种关联,该人群由349例年龄≧60岁的缺血性卒中患者和349例匹配的健康个体组成。逻辑回归分析显示,rs11196288与早发性缺血性卒中(IS)、大动脉粥样硬化性(LAA)卒中或小血管病(SVD)卒中之间无显著关联(所有P>0.050)。然而,在老年人群的亚组分析中,rs11196288在显性模型中对晚发性SVD卒中易感性有显著影响(GG/GA与AA相比,OR 1.70;95%CI 1.02至2.85;P=0.042)。结果表明,rs11196288多态性在中国汉族人群缺血性卒中易感性中的作用可能与欧洲人群不同。需要开展更大规模的不同人群研究来证实和扩展我们的发现。

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