在台湾人群中，连接蛋白 37 的功能性遗传变异与缺血性中风之间缺乏关联。
Lack of association between a functional genetic variant of connexin 37 and ischemic stroke in a Taiwanese population.
机构信息
Department of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan.
出版信息
Thromb Res. 2012 Apr;129(4):e65-9. doi: 10.1016/j.thromres.2011.12.040. Epub 2012 Feb 2.
INTRODUCTION
Connexin 37, encoded by the GJA4 gene, protects against atherosclerosis. A recent study reported an association between polymorphism rs1764391 at GJA4 and ischemic stroke in a Chinese population. We aimed to replicate this result.
MATERIALS AND METHODS
A total of 958 ischemic stroke patients and 2196 controls were enrolled for the study. All participants were Chinese residing in Taiwan. Logistic regression analysis with adjustment for traditional risk factors was used to estimate the genetic effect. We also performed stratification analyses by sex and stroke subtypes. Literature reviews were conducted for available genetic association studies investigating rs1764391 and cardiovascular phenotypes.
RESULTS
We did not find any significant association for overall stroke (p=0.87) or from any subset analyses. Eight studies addressing the associations between rs1764391 and cardiovascular phenotypes had a sample size greater than 1000. Including the present study, five out of the eight large-scale studies found no association.
CONCLUSIONS
GJA4 polymorphism is not associated with stroke risk in the Taiwanese population.
简介
连接蛋白 37 由 GJA4 基因编码，可预防动脉粥样硬化。最近的一项研究报告称，在中国人群中，GJA4 上的 rs1764391 多态性与缺血性脑卒中之间存在关联。我们旨在复制这一结果。
材料与方法
共纳入 958 例缺血性脑卒中患者和 2196 例对照者进行研究。所有参与者均为居住在中国台湾的汉族人。采用调整传统危险因素的 logistic 回归分析来评估遗传效应。我们还按性别和脑卒中亚型进行了分层分析。对研究 rs1764391 与心血管表型相关性的已有遗传关联研究进行了文献综述。
结果
我们未发现总体卒中（p=0.87）或任何亚组分析存在显著相关性。有 8 项研究探讨了 rs1764391 与心血管表型之间的关系，其样本量均大于 1000。包括本研究在内，8 项大规模研究中有 5 项未发现相关性。
结论
GJA4 多态性与台湾人群的卒中风险无关。
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