钙离子通道β2亚基基因多态性与温州地区汉族人群脑卒中的关联性

Association between CACNB2 gene polymorphism and stroke of ethnic Han Chinese in Wenzhou region

目的:探讨钙离子通道β2亚基(CACNB2)基因多态性与温州地区汉族人群脑卒中的关联性。方法:收集原发性高血压患者413例、高血压合并缺血性脑卒中患者418例、高血压合并出血性脑卒中患者377例、正常对照355例。采取病例-对照相关分析方法,利用飞行时间质谱分型技术对CACNB2基因6个SNP位点(rs11014166、rs10764319、rs7099380、rs7069292、rs2228645、rs2357928)进行分型。结果:原发性高血压组、高血压合并缺血性脑卒中组、高血压合并出血性脑卒中组rs7069292 CT基因型频率及C等位基因频率明显高于正常对照组(CT基因型频率分别为6.05%vs 1.97%,6.94%vs 1.97%,6.36%vs 1.97%,C等位基因频率分别为3.03%vs 1.0%,3.47%vs 1.0%,3.18%vs 1.0%),差异有统计学意义(均P<0.05)。原发性高血压组、高血压合并缺血性脑卒中组、高血压合并出血性脑卒中组CT基因型及C等位基因频率比较,差异无统计学意义(均P>0.05)。其余5个SNP位点各基因型频率及等位基因频率与对照组比较,差异均无统计学意义(均P>0.05)。结论:CACNB2基因rs7069292多态性与温州汉族人群原发性高血压具有关联性,T>C变异可能影响CACNB2功能,易患高血压。通过校正高血压影响,T>C变异与脑卒中不具关联性。

Objective： To explore the association between genetic polymorphism of CACNB2 and stroke of ethnic Han Chinese in Wenzhou region. Methods： Four hundred and thirteen cases of essential hypertension（EH）, 418 cases of high blood pressure with ischemic stroke, 377 cases of high blood pressure with hemorrhagic stroke and 355 normal controls were analyzed via cross-sectional case-control. Six SNP loci of genotypes of rs11014166, rs10764319, rs7099380, rs7069292, rs2228645, rs2357928 of CACNB2 were typed by MALDI-TOFMS. Results： Compared to the control, the frequency of the CT genotype and allele frequency C of rs7069292 in high blood pressure group, high blood pressure with ischemic stroke group and high blood pressure with hemorrhagic stroke group were significantly higher（the frequency of the CT genotype 6.05% vs 1.97%, 6.94% vs 1.97%, 6.36% vs 1.97%, allele frequency C 3.03% vs 1.0%, 3.47% vs 1.0%, 3.18% vs 1.0%, P〈0.05）. There was no significant difference in the other 5 SNPs, P〉0.05. Conclusion： There is significant association between polymorphisms of CACNB2 and people with essential hypertension（EH） in Wenzhou region. T〉C may be a factor that affected the gene expression of CACNB2 and lead to high blood pressure. Mutation of T〉C has no relevance with stroke by correcting the influence of high blood pressure.