Key result
ALOX5AP rs17222919 G allele linked to ~21% lower ischemic stroke risk.
Why the study?
No coding sequence variants of the ALOX5AP gene leading to amino acid substitutions have been identified, and the relationship between variants in its transcriptional regulatory region and ischemic stroke risk in Chinese populations was unclear.
Are genetic variants in the transcriptional regulatory region of the ALOX5AP gene associated with susceptibility to ischemic stroke in Chinese populations?
Case-Control (n=2,035)
Yes
Are genetic variants in the transcriptional regulatory region of the ALOX5AP gene associated with susceptibility to ischemic stroke in Chinese populations?
Odds Ratio: 0.792 (95% CI 0.669–0.937)
Absolute Event Rate: 19.3% vs 23.2%
p-value: p=0.007
The rs17222919 polymorphism and specific haplotypes in the ALOX5AP gene are significantly associated with ischemic stroke risk in the Chinese population.
Does not support genetic testing for stroke risk; hypothesis-generating in Chinese cohorts and requires validation.
No coding sequence variants of the ALOX5AP gene that lead to amino acid substitutions have been identified. A two-stage study design was used to explore the relationship between variants in the transcriptional regulatory region of ALOX5AP gene and ischemic stroke (IS) risk in Chinese populations. IS was determined using CT and/or MRI. First, 18 SNPs, located in the upstream promoter region of ALOX5AP gene, were genotyped in 200 IS patients and 200 controls. And one potential associated SNP (rs17222919) was identified (P = 0.005,OR = 0.623, 95% CI: 0.448~0.866). Next, another independent case-control cohort comprising 810 IS patients and 825 matched controls was recruited to investigate the role of rs17222919, rs9579646 polymorphisms and their haplotypes in IS risk. The G allele frequency of rs17222919 in the IS group was significantly lower than that in control group (P = 0.007, OR = 0.792, 95% CI: 0.669~0.937). T-A and G-A haplotypes were associated with IS (P = 0.001,OR = 1.282, 95% CI:1.100~1.495; P = 0.0001, OR = 0.712, 95% CI: 0.598~0.848; respectively). Our study providesevidence that rs17222919 is a potential genetic protective factor against IS. Furthermore, the T-A haplotype is a risk factor and the G-A haplotype is a protective factor against IS in Chinese population.
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Yang et al. (2016) conducted a case-control in Ischemic Stroke (n=2,035). rs17222919 polymorphism (G allele) in the ALOX5AP gene vs. Unexposed/reference group (T allele) was evaluated on Ischemic stroke risk (OR 0.792, 95% CI 0.669-0.937, p=0.007). The G allele of the rs17222919 polymorphism in the ALOX5AP gene was associated with a significantly decreased risk of ischemic stroke in a Chinese population (OR 0.792).
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