Association of GWAS-Supported Variants rs2200733 and rs6843082 on Chromosome 4q25 with Ischemic Stroke in the Southern Chinese Han Population.

Genome-wide association studies (GWAS) have revealed two single-nucleotide polymorphisms (SNPs) on chromosome 4q25, rs2200733, and rs6843082, associated with ischemic stroke (IS) in Caucasians. However, subsequent validation studies have remained controversial. The current study aims to evaluate the associations between rs2200733, rs6843082, and IS in the southern Chinese Han population. A total of 1632 subjects were recruited in this case-control study. Genotyping for rs2200733 and rs6843082 was conducted in the Sequenom MassARRAY iPLEX platform. The genetic association of the rs2200733 and rs6843082 polymorphisms with IS was estimated using the PLINK program. Our results show that the SNP rs2200733 and rs6843082 have no significant associations with IS in additive, dominant, recessive, and allelic models (all p > 0.050). However, the results also indicate that the rs2200733 polymorphism is associated with systolic blood pressure (SBP) in IS patients in both the additive model (p adj  = 0.002) and the recessive model (p adj  = 0.002) after correcting for age. Meanwhile, the rs6843082 polymorphism showed a significant association with serum total cholesterol (TC) in IS individuals in the additive model (p adj  = 0.017) and the dominant model (p adj  = 0.023). These findings suggest that the SNP rs2200733 and rs6843082 on chromosome 4q25 may be not associated with IS susceptibility in southern Han Chinese. As for IS-related quantitative traits, the rs2200733 and rs6843082 polymorphisms might influence SBP and TC in IS patients, respectively.