Genetic Variants in the Transcriptional Regulatory Region of the ALOX5AP gene and Susceptibility to Ischemic Stroke in Chinese Populations

Abstract

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.

Association of 5-lipoxygenase activating protein gene polymorphism and stroke: A study from north east of Iran

“…Our study has only evaluated one of the main SNPs in this region, while other effective SNPs are also present. Although not all of these SNPs were related to ischemic stroke in other populations, 11 however, they could be an effective predictor of stroke in our population and could be the subject of future studies. As a matter of fact, evaluating ALOX5AP polymorphism in different populations seems necessary to establish regional guidelines about genetic risk factors for developing stroke.…”

“…Some studies have reported an association between ALOX5AP promoter polymorphism (rs17222919) and stroke. 9 - 11 While stroke is a multifactorial and polygenic disease, studying such polymorphisms along with other traditional risk factors is useful for establishing life style modifications as well as predicting patient’s response to treatment and outcomes. The present study has been conducted in order to evaluate the relation between genetic polymorphism of ALOX5AP gene and developing ischemic stroke in north east of Iran.…”

Association between the polymorphism (rs17222919, −1316T/G) of 5-lipoxygenase-activating protein gene (ALOX5AP) and the risk of stroke

“…As reported in the original study, ALOX5AP mRNA levels were not compared between cases and controls, [ 22 , 25 ] which might also be a limitation of this study. Other limitations are listed as follows.…”

Associação de variantes polimórficas com síndrome metabólica: uma revisão integrative

“…14 Genome studies have led to identification of many genetic markers of cardiovascular risk/protection in different populations around the world, notably the genes IL1RA, CD14, PON1, ALOX5AP, loci 9p 21.3, and PON1 (Met55Leu and Gln192Arg). [15][16][17][18] Furthermore, studies suggest that the roles played by these cardiovascular risk factors may vary between ethnic groups. [19][20][21][22] These studies indicate that genetic polymorphisms distributed differently in populations of different ethnicities play a fundamental role in the presence of the ethnic/racial differences observed in MS.…”