In published research that includes genome-wide association studies and meta-analyses, the phosphodiesterase 4D (PDE4D) rs966221 variant has been identified as a risk factor in ischemic stroke (IS) in the Caucasian population. Several studies have investigated the relationship between rs966221 and IS susceptibility in Chinese populations over the years but have not provided consistently conclusive results. Therefore, our team performed a new meta-analysis of 5973 IS patients and 6204 controls from qualified studies. We observed no significant link between the PDE4D rs966221 variant and IS in any of the regional Chinese populations. Thus, we performed a subgroup analysis by the geographical distribution of China. Notably, significant associations were observed between rs96622 and the susceptibility of IS in the Northeast Chinese populations (p = 1.00 × 10-4, odds ratio = 1.28, and 95% confidence interval = 1.13-1.44, I2 = 0%). However, rs966221 was not found to be correlated with IS risk in the populations of North, Central, South, and East China. Our meta-analysis demonstrated that the PDE4D rs966221 variant is significantly associated with IS risk in some regional Chinese populations.
Keywords: Chinese population; genome-wide association study; ischemic stroke; pde4d; rs966221.