Aims Ischemic stroke (IS) is one of the most common diseases of neurology and the main cause of death and disability in Chinese population. CACNA1C was considered to be involved in the process of atherosclerosis, but there was little information about the association between genotypic polymorphisms of CACNA1C and ischemic stroke. Our study was designed to elucidate the relationship between four single-nucleotide polymorphisms (SNPs) variants in CACNA1C gene and the risk of large-artery atherosclerotic (LAA) stroke patients. Methods A total of 384 subjects were enrolled in this study, including 192 LAA stroke cases and 192 healthy controls. And four SNPs variants in CNCNA1C gene were genotyped using in-house developed multiplex tagged-amplicon deep sequencing (TAm-Seq). Statistical analysis were conducted using χ2 test and binary logistic regression analysis. Results We found one variant was significantly associated with LAA stroke in the allele models (rs10848683, p = 0.036, OR = 1.371, 95%CI: 1.021-1.841). And rs10848683 was also found to associate with LAA stroke under recessive model (p = 0.027, OR = 0.618, 95% CI: 0.403-0.947) after adjustment for gender and age. We also found that significant difference existed between haplotypes (rs229961-rs215976-rs216008-rs10848683) and LAA stroke (C-T-C-C, p = 0.017, OR = 2.265, 95%CI: 1.136-4.518; G-C-C-C, p = 0.046, OR = 1.891, 95% CI: 1.003-3.565; C-T-C-T, p = 0.001, OR = 0.256, 95%CI: 0.101-0.645). Conclusion The results suggested that there was a potential association between CNCNA1C gene and the risk factor of LAA stroke in Chinese Han population.
Keywords: CACNA1C; large-artery atherosclerotic stroke; single-nucleotide polymorphism.