EMILIN1 CYP11B2基因多态性与原发性高血压相关性研究

摘要

Objective This paper is developed to study the correlation between EMILIN 1 ,CYP11B2 gene pol-ymorphism and essential hypertension .Methods From March 2010 to March 2012 ,there were 100 cases of essential hypertensive patients admitted to the hospital for treatment ,which were under a retrospective analysis as clinical re-search objectives .Another control group were selected from healthy volunteers with normal blood pressure for the comparative study of gene polymorphism .The allelic gene distribution of EMILIN1 SNP gene and CYP 11B2 SNP gene of the two groups ,as well as the genotype distribution were respective detected based on the application of PCR-RFLP method .Results The allelic gene and genotype distributions of EMILIN1 rs2304682 of patients in observation group were found apparently different with control group ,for instance ,the frequency of genotype CG and allele gene G of observation group was much higher than control group ,while the frequency of its genotype CT and gene C dis-tinctly lower .In accordance to the frequency of CYP11B2 gene polymorphism genotype and allelic gene ,the gene TT in(CYP11B2)-344T/C gene polymorphism and its frequency were obviously higher than control group ,while geno-type CT and gene C evidently lower(P<0 .05) ,which was of statistical significance .Conclusion The possibility of EMILIN1 gene polymorphism is correlated to essential hypertension ,and the allelic gene T in(CYP11B2)-344T/C is of high frequency .%目的：研究 EMILIN1、CYP11B2基因多态性与原发性高血压的相关性。方法回顾性分析该院2010年3月至2012年3月期间收治的100例原发性高血压患者，将其作为临床研究对象（患者组），另选取血压正常的健康自愿者100例作为健康对照组，进行基因多态性的对比研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法分别检测两组EMILIN1基因SNP位点和CYP11B2基因SNP位点的等位基因及基因型分布情况。结果患者组患者EMILIN1基因rs2304682位点上的基因型与等位基因频率与健康对照组比较，差异有统计学意义（P＜0．05），患者组CG基因型、G等位基因频率明显高于健康对照组，而CC基因型、C等位基因频率则比健康对照组低；CYP11B2基因多态性基因型及等位基因频率发现，患者组（CYP11B2）-344 T/C基因多态性中TT基因型、T基因频率明显高于健康对照组，而CT 基因型、C基因频率则低于健康对照组，差异均有统计学意义（P＜0．05）。结论 EMILIN1基因多态性可能与原发性高血压有一定的相关性，（CYP11B2）-344T/C位点上等位基因T的频率较高。