Chromosome 9p21.3 Variants Are Associated with Cerebral Infarction in Chinese Population.

Common variants of chromosome 9p21.3 associated with coronary disease have been established, but the association of 9p21.3 and cerebral infarction (CI) is not consistent. The aim of this study is to confirm the association of cerebral infarction and 9p21.3 in a Chinese Han population. This is a hospital-based case-control study, which involves 769 patients and 682 healthy controls. Eight single-nucleotide polymorphisms (SNPs) associated with cerebral infarction in previous literatures were genotyped and analyzed. The association analyses were performed at both SNP and haplotype levels. Three (rs2383207, rs1537378, and rs3731245) of eight SNPs were associated with cerebral infarction. In an allelic association analysis, rs2383207, rs3731245, and rs1537378 were significantly associated with CI; the odd ratios were 1.18 (95 % confidence interval (CI) = 1.01-1.37, P = 0.04), 1.29 (95 % CI = 1.06-1.56, P = 0.01), and 1.30 (95 % CI = 1.05-1.60, P = 0.02), respectively. rs1537378 remains significantly associated with CI independent of traditional cerebrovascular risk factors in a recessive model (odds ratio (OR) = 1.35, 95 % CI = 1.06-1.71, P = 0.013, Q = 0.03) and in an additive model (OR = 1.38, 95 % CI = 1.11-1.71, P = 0.004, Q = 0.02); conversely, rs2383207 (OR = 1.28, 95 % CI = 1.03-1.59, P = 0.02, Q = 0.03) and rs3731245 (OR = 1.31, 95 % CI = 1.05-1.65, P = 0.02, Q = 0.03) were significantly different in a recessive model. Haplotype analysis showed that the protective effect for haplotype AATAA remained significant (OR = 0.87, 95 % CI = 0.73-1.00, P = 2.99 × 10(3), Q = 2.15 × 10(3)). These findings showed that chromosome 9p21.3 is an important susceptibility locus for cerebral infarction in Chinese population.