原发性高血压6个相关基因的研究

Analysis of 6 Candidate Genes of Essential Hypertension

目的探讨中国人群中血管紧张素原等6个原发性高血压(EHT)候选基因的基因型和单体型分布情况及与EHT的关系。方法采用基因芯片技术和Phase v 2.1单体型分析软件检测和分析264例EHT患者和319例健康对照者包括AGT、ACE、NOS3等在内的涉及肾素-血管紧张素-酮固酮系统(RAAS)和内皮功能相关的6个基因的基因型和单体型。结果中国人群中AGT等6个基因的等位基因频率分布具有中国特色。EHT组和健康对照组的ACEA luI/D基因型和ANP2238C/T等位基因频率分布差异有统计学意义(P分别为0.011和0.039);单体型则以RE-1(50%)和RE-8(20.4%)为主;两组间分布差异有统计学意义的有RE-1、RE-2和RE-3(P分别为0.019,0.035,0.037)。结论AGT等6个基因的基因型分布具有种族和地区差异,ACEA luI/D和ANP2238C/T可能与中国人群原发性高血压有关;单体型RE-1是高血压产生的危险因素,而RE-2、RE-10则有保护作用。

Objective To investigate the distribution of 6 essential hypertension（EHT） candidate genes＇ genotypes and haplotypes and analyze the association with EHT. Methods With gene array technology and the haplotye analysis software （Phase v 2.1）,the genotypes and haplotyes in 264 EHT patients and 319 healthy controls were detected and analyzed. Results 6 EHT＇ s candidate genes＇ allele frequency in Chinese was different from that of other countries and areas;the differences between EHT patients and healthy control about ACE^Alu I/D and ANP^2238 C/T allele genes＇ frequencies was statistically significant （P = 0. 011,0. 039 , respectively） ,the haplotyoe RE-1 and 8 were the main haplotypes in Chinese people. The frequencies of RE-1,2 and 10 in EHT patients were different from those of healthy controls in statistics. Conclusion The alleles frequencies of 6 genes were different among different countries and areas. ACE^Alu I/D, ANP^2238 C/T might contribute to the onset and progression of EHT. Among them,RE-2 and RE-10 played a protective role;and RE-1 was risk factor.