ALDH2*2 polymorphism is associated with an increased risk of extra cranial vascular stenosis and poor collateral vessels in ischemic stroke in Han Chinese

Background: Human aldehyde dehydrogenase 2 (ALDH2) is the major oxidative enzyme in alcohol metabolism. The ALDH2*2 polymorphism modifies the activity of this enzyme. This study assessed the association of ALDH2*2 with ischemic stroke and cerebral vascular stenosis. Methods: A total of 394 patients with acute ischemic stroke and 406 healthy controls were recruited for ALDH2 genotyping using Polymerase Chain Reaction (PCR) and DNA sequencing. Cerebrovascular stenosis was evaluated using digital subtraction angiography (DSA). Results: ALDH2 genotype and allele frequency did not differ between stroke patients and healthy controls (P=0.71 and 0.69, respectively). Moreover, there was a significantly lower frequency of the ALDH2 AA genotype in patients with abnormal intra cranial (IC) arteries (P=0.03, OR 0.18, 95% CI 0.04-0.81), whereas the AA genotype frequency was significantly higher in patients with abnormal extra cranial (EC) arteries (P=0.03, OR 6.05, 95% CI=1.16-31.53). The rate of good collateral vessels was significantly lower in the mutation group (GA+AA) (P=0.001, OR 3.00, 95% CI=1.54-5.82) and the allele frequency was significantly different between these two subgroups (P=0.02, OR 1.86, 95% CI=1.09-3.16). Conclusions: The data from the current study suggests that ALDH2*2 is a protective factor for IC arteries and a destructive factor for EC arteries in patients with ischemic stroke in this Han Chinese population. The rate of good collateral vessels was significantly lower in the mutation group (GA+AA and A allele).