Sung Yueh-Feng, Lu Chun-Chung, Lee Jiunn-Tay, Hung Yi-Jen, Hu Chaur-Jong, Jeng Jiann-Shing, Chiou Hung-Yi, Peng Giia-Sheun
From the Graduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan (Y.-F.S., C.-C.L., G.-S.P.); Department of Neurology (Y.-F.S., J.-T.L., G.-S.P.) and Division of Endocrinology and Metabolism, Department of Internal Medicine (Y.-J.H.), Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan; Department of Neurology, College of Medicine, Taipei Medical University and Shuang Ho Hospital, Taiwan (C.-J.H.); Stroke Center and Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan (J.-S.J.); School of Public Health, College of Public Health and Nutrition, Taipei Medical University, Taiwan (H.-Y.C.); and Division of Neurology, Department of Internal Medicine, Taipei Veterans General Hospital, Hsinchu Branch, Hsinchu County, Taiwan (G.-S.P.).
Stroke. 2016 Sep;47(9):2174-9. doi: 10.1161/STROKEAHA.116.013204. Epub 2016 Aug 2.
The *2 allele of the aldehyde dehydrogenase 2 gene (ALDH2) is the most common variant in Asian populations. The variant resulting in enzyme dysfunction was highly related to coronary artery disease. Recently, genome-wide association studies also discovered that the 12q24 locus near ALDH2 gene was associated with hypertension and ischemic stroke. This study intended to further investigate whether the above variant of ALDH2 increases the risk for ischemic stroke in Taiwanese.
A case-control study was conducted on 914 patients with acute ischemic stroke and 746 nonstroke controls. Polymerase chain reaction and sequencing were used to identify the ALDH2 genotype. Vascular risk factors, stroke subtypes, vascular stenosis, and stroke outcomes were analyzed.
ALDH2 genotypes differed significantly between male controls (*1/*1 versus *1/*2 versus *2/*2=53.8% versus 39.9% versus 6.4%) and male patients with ischemic stroke (*1/*1 versus *1/*2 versus *2/2=51.5% versus 37.3% versus 11.2%; P=0.048). No significant difference was found between groups for female patients (P=0.228). Multivariate logistic regression analysis revealed that the ALDH22/*2 genotype was an independent risk factor for ischemic stroke in male patients (odds ratio, 1.93 [95% confidence interval, 1.07-3.46]; P=0.028). Further analysis of men with ischemic stroke demonstrated that the polymorphism of ALDH2 was not related to vascular risk factors, severity of vascular atherosclerosis, stroke subtypes, and stroke functional outcomes.
The study demonstrated that ALDH2*2/*2 may be an independent risk factor for ischemic stroke in Taiwanese men, but not in Taiwanese women.
醛脱氢酶2基因（ALDH2）的*2等位基因是亚洲人群中最常见的变异体。这种导致酶功能障碍的变异与冠状动脉疾病高度相关。最近，全基因组关联研究还发现，ALDH2基因附近的12q24位点与高血压和缺血性中风有关。本研究旨在进一步调查上述ALDH2变异体是否会增加台湾地区人群患缺血性中风的风险。
对914例急性缺血性中风患者和746例非中风对照者进行了病例对照研究。采用聚合酶链反应和测序来鉴定ALDH2基因型。分析血管危险因素、中风亚型、血管狭窄和中风结局。
男性对照者（*1/1对1/2对2/*2 = 53.8%对39.9%对6.4%）与男性缺血性中风患者（*1/1对1/2对2/2 = 51.5%对37.3%对11.2%；P = 0.048）之间的ALDH2基因型存在显著差异。女性患者组之间未发现显著差异（P = 0.228）。多因素逻辑回归分析显示，ALDH22/*2基因型是男性患者缺血性中风的独立危险因素（比值比，1.93 [95%置信区间，1.07 - 3.46]；P = 0.028）。对缺血性中风男性患者的进一步分析表明，ALDH2的多态性与血管危险因素、血管动脉粥样硬化严重程度、中风亚型和中风功能结局无关。
该研究表明，ALDH2*2/*2可能是台湾地区男性缺血性中风的独立危险因素，但不是台湾地区女性的独立危险因素。
