Association of COL4A2 Gene Polymorphisms with Lacunar Stroke in Xinjiang Han Populations

Recent studies have shown that variants in the COL4A2 genes are associated with sporadic cerebral small vessel disease. The aim of the study was to investigate the relationship between COL4A2 gene polymorphisms and lacunar stroke in Xinjiang Han populations. The improved multiple ligase detection reaction (iMLDR) method was used to analyze the genotypes of seven single-nucleotide polymorphisms (SNPs) in the COL4A2 gene (rs3803230, rs391859, rs4103, rs445348, rs76425569, rs7990383, rs9515185) in a case-control study of 406 lacunar stroke patients and 425 controls. The GG genotype of rs3803230 (adjusted OR = 1.303, 95% CI = 1.146-1.480, P < 0.001) and the GA/AA genotype of rs76425569 (adjusted OR = 1.744, 95% CI = 1.306-2.329, P < 0.001) showed significant increases in the risk of lacunar stroke. The G-A haplotype of rs3803230-rs76425569 carried a significant increase in the risk of lacunar stroke (OR = 1.616, 95% CI = 1.292-2.022, P < 0.001). Hypertension stratification analyses demonstrated that the GA/AA genotype of rs76425569 was significantly associated with lacunar stroke in the hypertensive group (adjusted OR = 1.316, 95% CI = 1.083-1.598, P = 0.006). In the non-hypertensive group, the GG genotype of rs3803230 (adjusted OR = 1.584, 95% CI = 1.257-1.997, P < 0.001) and GA/AA genotype of rs76425569 were significantly associated with lacunar stroke (adjusted OR = 1.312, 95% CI = 1.054-1.635, P = 0.015). The TT genotype of rs4103 was significantly associated with lacunar stroke in the non-hypertensive group (adjusted OR = 1.355, 95% CI = 1.152-1.594, P < 0.001). This study demonstrates that the COL4A2 gene could play a role in the pathogenesis of lacunar stroke in the Han population of China.