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首页> 外文期刊>CNS neuroscience & therapeutics >An association study on ADAM10 promoter polymorphisms and atherosclerotic cerebral infarction in a chinese population
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An association study on ADAM10 promoter polymorphisms and atherosclerotic cerebral infarction in a chinese population

机译：中国人群ADAM10启动子多态性与动脉粥样硬化性脑梗死的相关性研究

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Summary: Aim: Dysregulation of the activity of the disintegrin/metalloproteinase ADAM10 could contribute to the development of atherosclerosis. Although a number of genetic studies have focused on the association of ADAM10 gene polymorphisms with susceptibility to diseases, no genetic association studies of ADAM10 gene variability with atherosclerotic cerebral infarction (ACI) have been conducted. The aim of this study was to analyze the potential association between ADAM10 promoter polymorphisms and ACI. Methods: The associations between rs653765 and rs514049 polymorphisms of the ADAM10 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 ADAM10 was significantly associated with increased ADAM10 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 ADAM10 either. Conclusion: Our findings indicate a positive association between the rs653765 polymorphism of ADAM10 and ACI, as well as a negative result for rs514049. In addition, a significant increase in ADAM10 expression was observed in patients with ACI carrying the rs653765 C > T mutation. This new knowledge about ADAM10 might be clinically important and confirm a role for ADAM10 in the pathophysiology of ACI, with potentially important therapeutic implications.
机译：摘要：目的：整联蛋白/金属蛋白酶ADAM10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ADAM10基因多态性与疾病易感性的关联上，但尚未进行ADAM10基因变异与动脉粥样硬化性脑梗死（ACI）的遗传关联研究。这项研究的目的是分析ADAM10启动子多态性与ACI之间的潜在关联。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ADAM10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ADAM10等位基因与ADAM10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ADAM10的表达。结论：我们的发现表明ADAM10的rs653765多态性与ACI之间存在正相关，而rs514049的结果为负。此外，在携带rs653765 C> T突变的ACI患者中观察到ADAM10表达显着增加。有关ADAM10的新知识可能在临床上很重要，并确认ADAM10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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