钙通道基因CACNA1C基因多态性与脑卒中关系的研究

Relationship between CACNA1C gene polymorphism and stroke

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 polymorphism and stroke. Methods Total 795 hypertensive patients with stroke were enrol ed in the study, including 377 cases of hemorrhagic stroke and 418 cases of is-chemic stroke;413 cases of hypertension and 355 healthy subjects were also enrol ed as controls. The mass spectrometry tech-nology and direct CACNA1C gene sequencing technology were applied to test five SNP sites rs10848683, rs2299661, rs1051375, rs216008, rs215976, and the genotype and al ele frequency were analyzed. Results The frequencies of CACNA1C rs2299661 CC genotype in cerebral infarction and hypertension patients were higher than those in cerebral hemorrhage patients and normal controls （both P〈0.05）, there was no significant difference between cerebral infarction and hypertension patients （P〉0.05）. The frequency of C al ele in cerebral infarction patients was higher than that in cerebral hemorrhage, hypertension and control groups （al P〈0.05）;there was no significant difference among cerebral hemorrhage, hypertension and control groups （al P〉0.05）. There were no significant differences in genotype frequencies and al ele frequency of rs216008, rs1051375, rs10848683, rs215976 SNP locus among al groups （al P〉0.05）. Conclusion The CACNA1C rs2299661 C/G polymorphisms is correlated with ischemic stroke in hypertensive patients, which indicates that C al ele may be a susceptibility loci for hypertensive ischemic stroke.