Correlativity between single nucleotide polymorphisms in ALOX5AP promoter gene and ischemic stroke in north Chinese Han population / 中华神经科杂志

ABSTRACT

Objective To investigate the role of single nucleotide polymorphisms(SNPs)of ALOXSAP promoter gene in ischemic stroke susceptibility in north Chinese Han population.Methods A total of 220 ischemic stroke patients of north Chinese Han population and 191 healthy controls that had been matched for age and sex were enrolled in this study.Polymerase chain reaction(PCR)and direct sequencing were used for target gene genotyping and SNPs analysis.Association study was performed to analyze the relationship between genotype and phenotype and logistic regression was adopted to adjust the bias of conventional stroke risk factors.Results Three novel SNPs located in the promoter of ALOXSAP gene were found and frequencies of G/A genotype of-499 site, G/T genotype of-290 site and G/G genotype of -190 site were significantly higher in ischemic stroke patients than controls.Meanwhile, three haplotypes consisted of these SNPs were identified to be correlated with ischemic stroke, including a protective haplotype, Hap I(OR O.54, 95% CI 0.408 to 0.715), and two risk ones, Hap Ⅱ(OR 2.91, 95% CI 1.351 to 6.239)and Hap Ⅲ(OR 18.82, 95% CI 2.562 to 138.38).Meanwhile, the frequencies of G/A genotype of-499 site, G/T genotype of-290 site, Hap Ⅱ and Hap Ⅲ were significantly higher in ischemic stroke patients with more severe cerebral atherosclerosis indicated by digital subtract angiography. Conclusion Three novel SNPs in promoter of ALOX5AP gene are closely associated with ischemic stroke susceptibility in north Chinese Han population.