No coding sequence variants of the gene encoding 5-lipoxygenase-activating protein (ALOX5AP)that lead to amino acid substitutions have been identified. A two-stage study design was used toexplore the relationship between variants in the transcriptional regulatory region of ALOX5APgene and ischemic stroke (IS) risk. First, 18 single nucleotide polymorphisms (SNPs) within the promoter region of ALOX5AP gene were genotyped in 100 IS patients and 100 controls. IS wasdetermined using brain imaging techniques. One potential associated SNP (rs17222919) wasidentified (P=0.041, OR=0.628, 95%C/: 0.401～0.984). The haplotype (TACCATTGG), excludingSNP (rs I 7222919), was associated with IS.Next.another independent case-control cohortcomprising 810 IS patients and 825 matched controls was recruited to investigate the role ofrs17222919 and rs9579646 polymorphisms in IS risk The G allele frequency of rs17222919 in theIS group was significantly Jower than that in controJ group (P=0.007. OR=0.792, 95%CI: 0.669-0.937). T-A and G-A haplotypes were associated with IS. Our study provides evidence thatrs17222919 is a potential genetic protective factor against IS. Furthermore. the T-A haplotype is arisk factor and the G-A haplotype is a protective factor against IS in Chinese Han population.
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