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本文引用的文献

1
A Study of GWAS-Supported Variants of rs9943582 in a Chinese Han Population with Ischemic Stroke: No Associations with Disease Onset and Clinical Outcomes.中国汉族缺血性脑卒中人群中rs9943582的全基因组关联研究支持变异:与疾病发病及临床结局无关联
J Stroke Cerebrovasc Dis. 2017 Oct;26(10):2294-2299. doi: 10.1016/j.jstrokecerebrovasdis.2017.05.013. Epub 2017 Jun 23.
2
Genomic Variant in IL-37 Confers A Significant Risk of Coronary Artery Disease.白细胞介素 37 基因变异赋予冠心病的显著风险。
Sci Rep. 2017 Feb 9;7:42175. doi: 10.1038/srep42175.
3
Stroke Risk Factors, Genetics, and Prevention.中风风险因素、遗传学与预防
Circ Res. 2017 Feb 3;120(3):472-495. doi: 10.1161/CIRCRESAHA.116.308398.
4
Global Burden of Stroke.全球卒中负担。
Circ Res. 2017 Feb 3;120(3):439-448. doi: 10.1161/CIRCRESAHA.116.308413.
5
Loss of heterozygosity detected at three short tandem repeat locus commonly used for human DNA identification in a case of paternity testing.在一例亲子鉴定中,在常用于人类DNA鉴定的三个短串联重复序列位点检测到杂合性缺失。
Leg Med (Tokyo). 2017 Jan;24:7-11. doi: 10.1016/j.legalmed.2016.11.001. Epub 2016 Nov 5.
6
Loci associated with ischaemic stroke and its subtypes (SiGN): a genome-wide association study.与缺血性中风及其亚型相关的基因座(SiGN):一项全基因组关联研究。
Lancet Neurol. 2016 Feb;15(2):174-184. doi: 10.1016/S1474-4422(15)00338-5. Epub 2015 Dec 19.
7
Global Stroke Belt: Geographic Variation in Stroke Burden Worldwide.全球卒中带:全球卒中负担的地理差异
Stroke. 2015 Dec;46(12):3564-70. doi: 10.1161/STROKEAHA.115.008226. Epub 2015 Oct 20.
8
Association of SNP Rs9943582 in APLNR with Left Ventricle Systolic Dysfunction in Patients with Coronary Artery Disease in a Chinese Han GeneID Population.中国汉族人群中APLNR基因的SNP Rs9943582与冠心病患者左心室收缩功能障碍的关联
PLoS One. 2015 May 19;10(5):e0125926. doi: 10.1371/journal.pone.0125926. eCollection 2015.
9
Candidate pathway-based genome-wide association studies identify novel associations of genomic variants in the complement system associated with coronary artery disease.基于候选通路的全基因组关联研究确定了补体系统中与冠状动脉疾病相关的基因组变异的新关联。
Circ Cardiovasc Genet. 2014 Dec;7(6):887-94. doi: 10.1161/CIRCGENETICS.114.000738. Epub 2014 Sep 23.
10
Meta-analysis in more than 17,900 cases of ischemic stroke reveals a novel association at 12q24.12.对超过17900例缺血性中风病例的荟萃分析揭示了12号染色体长臂24.12区域存在一种新的关联。
Neurology. 2014 Aug 19;83(8):678-85. doi: 10.1212/WNL.0000000000000707. Epub 2014 Jul 16.

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.

DOI:10.18632/oncotarget.22588
PMID:29296197
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5746099/
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。