Association of CYP11B2 gene polymorphism with ischemic stroke in the north Chinese Han population

BACKGROUND: Genetic variations of renin-angiotensin-aldosterone system play an important role in the pathogenesis of hypertension and stroke. AIM: To investigate the -344C/T and intron 2 conversion polymorphisms of aldosterone synthase gene (CYP11B2) for an association with stroke and hypertension in the North Chinese Han population. MATERIALS AND METHODS: This case-control study included 332 patients and 250 controls. Genotypes of -344C/T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and the intron 2 conversion polymorphism was genotyped using two separated PCRs. RESULTS: There were significant differences in genotype frequencies of -344C/T polymorphism between stroke patients and controls (P = 0.002). An association was found between TT genotype and ischemic stroke [odds ratio = 1.572, 95%CI (1.095-2.258), P = 0.014]. However, there was no significant association of intron 2 polymorphism with stroke. Furthermore, when the ischemic stroke patients were classified according to Trial of Org 10172 in Acute Stroke Treatment classification, TT genotype was found to be associated with large artery atherosclerosis [odds ratio = 1.747, 95%CI (1.182-2.584), P = 0.005] and small vessel disease [odds ratio = 1.781, 95%CI (1.134-2.796), P = 0.012]. The intron 2 polymorphism failed to show relationship with any specific stroke subtype. CONCLUSIONS: Our findings suggest a significant association of CYP11B2 (-344C/T) polymorphism with stroke but intron 2 polymorphism is not associated with increased stroke susceptibility.