钙离子通道基因CACNA1C多态性与原发性高血压病的关系研究

The relationship between CACNA1C polymorphism and essential hypertension

目的：探讨钙离子通道基因CACNA1C的SNP位点rs10848683C/T、rs2299661C/G与原发性高血压的关系。方法：采用多重聚合酶链反应方法及基质辅助激光解析-飞行时间质谱分析技术对413例中国汉族原发性高血压患者以及372例正常对照CACNA1C基因rs10848683C/T、rs2299661C/G的等位基因进行检测,观察各基因型频率及等位基因频率。结果：原发性高血组rs10848683 T等位基因频率与对照组相比无明显差异（58.24%：60.69%,P〉0.05）,OR=0.472,95%C I：0.382-1.441;原发性高血组rs2299661 G基因频率与对照组相比无明显差异（63.80%：64.83%,P〉0.05）,OR=1.255,95%C I：0.636~2.477。结论：CACNA1C rs10848683C/T rs2299661C/G基因多态性与中国汉族人群原发性高血压的发生不具有关联性。

Objective：To explore the association between CACNA1C SNP（rs10848683C/T rs2299661C/G） and essential hypertension.Methods： For 413 Han nationality hypertensives and 372 normal control,Multi-polymerase chain reaction and matrix assisted laser desorption ionization time of flight mass spectrometry were performed to detect the genotype and allele frequency of the 2 SNP sites in CACNA1C.Results： The T allele frequency of rs10848683 in essential hypertensive group was not significantly different from that in normal control group（58.24% versus 60.69%,P=0.05）,OR=0.472,95%CI：0.382~1.441.The G allele frequency of rs2299661 in essential hypertensive group was also not significantly different from that in normal control group（63.80% versus 64.83%,P0.05）,OR=1.255,95%CI,0.636~2.477.Conclusion： There was no association between the 2 SNP sites（rs10848683C/T rs2299661C/G） of CACNA1C and essential hypertension in Chinese Han population.