Background: Previous studies have shown that the phosphodiesterase 4D (PDE4D) gene is a susceptibility gene for ischemic stroke (IS) primarily in elder populations. However, few studies have reported the role of the PDE4D gene polymorphisms in a young cohort.
Aims: To investigate the association between the PDE4D gene polymorphisms and young-onset IS in Chinese population.
Materials and methods: A total of 186 young patients (18-45 years) with IS and 232 matched control subjects were recruited. Two SNPs (rs918592 and rs2910829) in PDE4D gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Odds ratio and 95% confidence intervals (95% CI) were calculated to test the association between the genetic factors and IS.
Results: The rs918592A/A genotype frequency and A allele frequency, rs2910829 CT/TT genotype frequency and T allele frequency of young IS group were significantly higher than those of the control group ( P < 0.05). Besides, the frequency of Hap (A-T) was remarkably higher in the young patients than that in the controls (OR =4.047, 95% CI: 3.521-4.652). Hap (A-C) and Hap (G-C) were associated with decreased risk of IS (OR =0.640, 95% CI: 0.452-0.906; OR =0.675, 95% CI: 0.466-0.978, respectively).
Conclusions: Our findings suggest that the rs918592 and rs2910829 polymorphisms and haplotypes of PDE4D gene are significantly associated with IS in Chinese young population.