Gormley K, Bevan S, Markus H S
Centre for Clinical Neuroscience, St. George's University of London, London, UK.
Cerebrovasc Dis. 2007;23(2-3):148-55. doi: 10.1159/000097052. Epub 2006 Nov 16.
Genetic variation in the renin-angiotensin system (RAS) has been implicated in stroke, particularly the small vessel disease (SVD) subtype. Furthermore, there may be two distinct subtypes of cerebral SVD, isolated lacunar infarction (ILI) and ischaemic leukoaraiosis (ILA).
300 patients with well-phenotyped SVD and 600 controls were genotyped for five polymorphisms in the angiotensinogen (AGT) gene and eight polymorphisms within the angiotensin-converting enzyme (ACE) gene.
AGT and ACE polymorphisms and haplotypes were no more common in SVD cases as a whole or the two subtypes. Amongst hypertensives only, an AGT promoter polymorphism (-20A-->C), was associated with the ILA subtype (multivariate odds ratio 1.716, 95% confidence interval 1.073-2.746, p = 0.024).
RAS genetic variants are not strong risk factors for cerebral SVD. The AGT -20C allele may be a risk factor for the leukoaraiosis subtype amongst hypertensives.
肾素-血管紧张素系统（RAS）的基因变异与中风有关，尤其是小血管疾病（SVD）亚型。此外，脑SVD可能存在两种不同的亚型，即孤立性腔隙性梗死（ILI）和缺血性白质疏松症（ILA）。
对300例表型明确的SVD患者和600例对照者进行血管紧张素原（AGT）基因的5种多态性和血管紧张素转换酶（ACE）基因内的8种多态性基因分型。
AGT和ACE多态性及单倍型在整个SVD病例或两种亚型中并不更常见。仅在高血压患者中，AGT启动子多态性（-20A→C）与ILA亚型相关（多变量优势比1.716，95%置信区间1.073 - 2.746，p = 0.024）。
RAS基因变异不是脑SVD的强风险因素。AGT -20C等位基因可能是高血压患者中白质疏松症亚型的风险因素。
