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在中国汉族人群中,基因变异rs9943582与缺血性中风之间不存在关联。

Lack of association between the variant rs9943582 with ischemic stroke in the Chinese Han GeneID population.

作者信息

Wang Pengyun, Wang Chuchu, Li Sisi, Wang Binbin, Xiong Liang, Tu Xin, Wang Qing K, Xu Cheng-Qi

机构信息

Department of Clinical Laboratory, Liyuan Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, P. R. China.

Key Laboratory of Molecular Biophysics of the Ministry of Education, Cardio-X Institute, College of Life Science and Technology and Human Genome Research Center, Huazhong University of Science and Technology, Wuhan, P.R. China.

出版信息

Oncotarget. 2017 Nov 21;8(64):107678-107684. doi: 10.18632/oncotarget.22588. eCollection 2017 Dec 8.

Abstract

Stroke is one of the most common causes of death worldwide. Genetic risk factors have been found to play important roles in the pathology of ischemic stroke. In a previous genome-wide association study, a functional variant (rs9943582, -154G/A) in the 5' flanking region of the apelin receptor gene () was shown to be significantly associated with stroke in the Japanese population. However, the association required validation in other ethnicities. To validate the genetic relationship between and ischemic stroke in the Chinese Han population, we genotyped rs9943582 in a case-control population containing 1,158 ischemic stroke patients and 1,265 common controls enrolled from the GeneID database, and performed a genetic association study. We detected no allelic or genotypic associations between rs9943582 and ischemic stroke in the Chinese Han GeneID population, although the study population provided sufficient statistical power. This finding indicates that the association between the variant and ischemic stroke or atherosclerosis may need further validation.

摘要

中风是全球最常见的死因之一。已发现遗传危险因素在缺血性中风的病理过程中起重要作用。在先前的全基因组关联研究中,阿片肽受体基因()5'侧翼区域的一个功能性变异(rs9943582,-154G/A)在日本人群中显示与中风显著相关。然而,这种关联需要在其他种族中进行验证。为了验证中国汉族人群中该基因与缺血性中风之间的遗传关系,我们对来自基因识别数据库的1158例缺血性中风患者和1265例正常对照组成的病例对照人群进行了rs9943582基因分型,并进行了遗传关联研究。尽管研究人群具有足够的统计学效力,但我们在中国汉族基因识别人群中未检测到rs9943582与缺血性中风之间的等位基因或基因型关联。这一发现表明该基因变异与缺血性中风或动脉粥样硬化之间的关联可能需要进一步验证。

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