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首页> 外文期刊>CNS neuroscience & therapeutics. >An Association Study on i ADAM 10/i Promoter Polymorphisms and Atherosclerotic Cerebral Infarction in a Chinese Population
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An Association Study on i ADAM 10/i Promoter Polymorphisms and Atherosclerotic Cerebral Infarction in a Chinese Population

机译：中国人群 ADAM 10 启动子多态性与动脉粥样硬化性脑梗死的关联研究

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Summary Aim Dysregulation of the activity of the disintegrin/metalloproteinase ADAM 10 could contribute to the development of atherosclerosis. Although a number of genetic studies have focused on the association of ADAM 10 gene polymorphisms with susceptibility to diseases, no genetic association studies of ADAM 10 gene variability with atherosclerotic cerebral infarction ( ACI ) have been conducted. The aim of this study was to analyze the potential association between ADAM 10 promoter polymorphisms and ACI . Methods The associations between rs653765 and rs514049 polymorphisms of the ADAM 10 promoter and the possible risk of ACI were assessed among 347 patients with ACI and 299 matched healthy individuals in a case–control study. Results Overall, there was a significant difference in the genotypes frequencies of rs653765 ( P = 0.04) between the ACI and control subjects. In addition, the rs653765 mutated allele of ADAM 10 was significantly associated with increased ADAM 10 expression in patients with ACI ( P = 0.032). In contrast, the allele frequency of rs514049 was not statistically associated with ACI , and the rs514049 variant A C did not affect the expression of ADAM 10 either. Conclusion Our findings indicate a positive association between the rs653765 polymorphism of ADAM 10 and ACI , as well as a negative result for rs514049. In addition, a significant increase in ADAM 10 expression was observed in patients with ACI carrying the rs653765 C T mutation. This new knowledge about ADAM 10 might be clinically important and confirm a role for ADAM 10 in the pathophysiology of ACI , with potentially important therapeutic implications.
机译：概述目的整合素/金属蛋白酶ADAM 10活性的异常调节可能有助于动脉粥样硬化的发展。尽管许多遗传学研究集中在ADAM 10基因多态性与疾病易感性的关联上，但尚未进行ADAM 10基因变异与动脉粥样硬化性脑梗死（ACI）的遗传关联研究。本研究的目的是分析ADAM 10启动子多态性与ACI之间的潜在联系。方法在一项病例对照研究中，评估了347例ACI患者和299例匹配的健康个体中ADAM 10启动子的rs653765和rs514049多态性与ACI可能风险之间的关联。结果总体而言，ACI与对照组受试者的rs653765的基因型频率存在显着差异（P = 0.04）。此外，ACI患者中rs653765突变的ADAM 10等位基因与ADAM 10表达增加显着相关（P = 0.032）。相反，rs514049的等位基因频率与ACI在统计上不相关，并且rs514049变体A> C也不影响ADAM 10的表达。结论我们的发现表明ADAM 10的rs653765多态性与ACI正相关，而rs514049的阴性结果。此外，在携带rs653765 C> T突变的ACI患者中观察到ADAM 10表达显着增加。有关ADAM 10的新知识可能在临床上很重要，并确认ADAM 10在ACI的病理生理中的作用，可能具有重要的治疗意义。

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