Abstract
Genetic association analysis has suggested that IMPA2 is a susceptibility gene for ischemic stroke (IS). To explore the association between IMPA2 polymorphisms and the risk of IS in a Han Chinese population, candidate gene association was performed using data from a case-control study of 488 IS patients and 503 control subjects. Odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the association, and associations were evaluated under dominant, recessive, and additive genetic models using PLINK software. There was a statistically significant difference in the “TC” genotype frequency of the IMPA2 polymorphism rs589247, between cases and controls (50.0% vs. 45.3%). Under the dominant model, rs589247 was associated with an increased risk of IS (OR=1.32, 95%CI: 1.01-1.73; P=0.040). There were no other associations between any of the seven additional IMPA2 polymorphisms and IS risk. This study is the first to find a correlation between an IMPA2 polymorphism and IS risk in a northwest Han Chinese population. These results may help to elucidate the molecular pathogenesis of this disease, and could potentially be used to predict IS risk. However, further studies are still needed to validate this association in other populations and with larger sample sizes.
Highlights
Ischemic stroke (IS) is a leading cause of death and disability [1]
Rs589247 was associated with an increased risk of ischemic stroke (IS) (OR=1.32, 95%confidence intervals (CIs): 1.01-1.73; P=0.040)
We used candidate gene association analysis to determine the genetic susceptibility of single nucleotide polymorphisms (SNPs) in the IMPA2 gene with IS risk in a Han Chinese population
Summary
Ischemic stroke (IS) is a leading cause of death and disability [1]. Worldwide, approximately 15 million individuals suffer from stroke every year, and at least 80% of them are IS patients. 0.566 0.120 0.120 0.199 0.126 0.197 0.313 0.307 candidate genes for this illness have been investigated with numerous significant associations, such as variants in APOD in Swedish populations [9], KCNK17 in Spanish populations [10], and APOA5 in Han Chinese populations [11, 12]. These candidate genes may have a more prominent influence on disease onset when environmental factors have not yet had sufficient time to modify the phenotype. Eight IMPA2 SNPs (rs7506045, rs589247, rs669838, rs636173, rs3786385, rs1020294, rs1250171, and rs613993) that had been investigated for bipolar disorder and/or IS with minor allele frequencies (MAF) >5% in a Han Chinese Beijing population were selected to investigate their potential correlations
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