ClC-KbT481S氯离子通道基因多态性与缺血性脑卒中和高血压的关系

Austin G. Milton, M. A. Hamilton-Bruce, S. Koblar, J. Jannes
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摘要

中风是一种多基因疾病。以往的遗传学研究主要集中在影响致病过程的候选基因上,很少关注影响血管危险因素的基因。先前的研究将ClC-Kb T481S多态性与血压(BP)联系起来。因此,我们进行了一项关联研究,以确定这种多态性与中风,特别是腔隙性中风的相关性,因为它与高血压有很强的相关性。我们使用基因序列特异性聚合酶链反应法(SS-PCR)对180例急性缺血性卒中患者(44例为腔隙性卒中)和298例年龄和性别匹配的对照组进行DNA基因分型。我们发现ClC-Kb T481S多态性与缺血性卒中之间没有关联(优势比(OR): 0.87, 95%可信区间(CI): 0.57-1.33)。脑卒中亚型的分层并没有改变这一发现。该多态性与高血压史呈边缘相关性(p=0.06),但与收缩压和舒张压无相关性(p>0.05)。据我们所知,没有其他关于这种多态性和中风的研究发表。
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The ClC-KbT481S chloride channel gene polymorphism, ischaemic stroke and hypertension
Stroke is a polygenic disorder. Previous genetic studies focused on candidate genes influencing pathogenic processes, with little emphasis on genes influencing vascular risk factors. Previous research linked the ClC-Kb T481S poly- morphism to blood pressure (BP). We therefore undertook an association study to determine the relevance of this poly- morphism to stroke, particularly lacunar stroke, given its strong correlation with hypertension. We genotyped DNA from 180 patients with acute ischaemic stroke (44 having lacunar stroke) and 298 age- and gender-matched controls using a se- quence-specific polymerase chain reaction method (SS-PCR). We found no association between the ClC-Kb T481S poly- morphism and ischaemic stroke (Odds Ratio (OR): 0.87, 95% Confidence Interval (CI): 0.57-1.33). Stratification for stroke subtype did not alter this finding. This polymorphism showed a borderline association with history of hypertension (p=0.06) but was not associated with systolic or diastolic BP (p>0.05). To our knowledge there are no other studies pub- lished on this polymorphism and stroke.
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