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目的探讨钙通道基因CACNA1C基因多态性与脑卒中的关系。方法检测CACNA1C基因5个SNP位点rs10848683、rs2299661、rs1051375、rs216008、rs215976的基因型和等位基因频率。结果脑梗死组与高血压组CACNA1C rs2299661基因型CC频率高于脑出血组和对照组(均P<0.05),脑梗死组与高血压组比较,差异无统计学意义(P>0.05);脑梗死组C等位基因频率高于脑出血组、高血压组及对照组(均P<0.05);脑出血组、高血压组及对照组间C等位基因频率两两比较,差异均无统计学意义(均P>0.05)。rs216008、rs1051375、rs10848683、rs215976各SNP位点基因型频率及等位基因频率差异均无统计学意义(均P>0.05)。结论 CACNA1C的rs2299661 C/G多态性与中国人高血压缺血性脑卒中的发生呈显著相关,C等位基因可能为高血压缺血性脑卒中的易感位点。
Objective To investigate the relationship between CACNA1C gene polymorphism of calcium channel and stroke. Methods The genotypes and allele frequencies of rs10848683, rs2299661, rs1051375, rs216008 and rs215976 in 5 SNPs of CACNA1C gene were detected. Results The frequencies of CC genotypes of CACNA1C rs2299661 in cerebral infarction group and hypertension group were higher than those in cerebral hemorrhage group and control group (all P <0.05). There was no significant difference in CC frequency between cerebral infarction group and hypertensive group (P> 0.05) The frequency of C allele in infarction group was higher than those in cerebral hemorrhage group, hypertension group and control group (all P <0.05). There was no statistical difference in C allele frequencies between cerebral hemorrhage group, hypertension group and control group Significance (both P> 0.05). rs216008, rs1051375, rs10848683, rs215976 SNP loci genotype frequency and allele frequency differences were not statistically significant (all P> 0.05). Conclusion The C / G polymorphism of rs2299661 in CACNA1C is significantly associated with the occurrence of ischemic stroke in Chinese and the C allele may be a susceptible site in hypertensive ischemic stroke.