中国汉族人群不同高血压易感基因SNPs与原发性高血压的关系  

THE RELATIONSHIP OF HYPERTENSION PREDISPOSING GENES SNPS AND ESSENTIAL HYPERTENSION IN CHINESE HAN POPULATION

作　　者：王惠[1] 陈青山[2] 薛雯[1] 眭维国[1] 郑璨[3] 戴勇[1] 

机构地区：[1]中国人民解放军第181医院全军器官移植与透析治疗中心广西代谢性疾病研究重点实验室,广西桂林541002 [2]暨南大学,广东广州510632 [3]广西师范大学,广西桂林541002

出　　处：《现代医院》2013年第5期4-7,共4页Modern Hospitals

基　　金：广西科学研究与技术开发计划项目(编号:桂科攻10124001B-18)

摘　　要：目的了解中国汉族人群中6个原发性高血压(Essential Hypertension,EHT)相关基因(包括:AGT235、ACEAlu、ANP2238、NPRC-55、NOS3298、ET-2985)的基因型和基因频率与EHT的关系。方法采用基因芯片技术和SPSS13.0软件,检测和分析537例(其中男482例,女48例,性别不详7例)常规体检和住院的汉族人群的6个易感基因单核苷酸多态性(Single Nucleotide Polymorphism,SNPs)基因型和基因频率。结果NPRC-55和NOS3298不处于H-W平衡(p<0.01),其余处于H-W平衡(p>0.05或p>0.01)。6个EHT易感基因中的SNPs最小等位基因在中国汉族人群中的频率(x)分布为:0.4≤x≤0.5为33.3%,0.3≤x<0.4为0,0.2≤x<0.3为16.7%,0.1≤x<0.2为50.0%,0<x<0.1为0,x=0为0。ACEAlu等位基因频率在不同性别之间的差异具有统计学意义,其2,p分布为(10.490,0.005)。ACEAlu等位基因频率在EHT发病组间的差异具有统计学意义,其2,p分布为(25.784,0.001)。结论 ACEAlu与中国汉族人群原发性高血压之间可能存在相关性,AGT235的检测可能对EHT的预测和诊断有一定意义。Objective To investigate the distribution of 6 essential hypertension （EHT） genotypes, inclu- ding： AGT^235, ACE^Alu, ANP^2238, NPRC^-55, NOS^298, ET-2^985 and the genes frequency, and to analyze their asso- ciation with EHT. Methods The single nucleotide polymorphism （SNPs） genotypes and genes frequency in 537 par- ticipants （482 males, 48 females） of Han population were analyzed with gene array technology and software SPSS13.0. Their blood samples were collected in their physical examination and hospitalization. Results The genes distribution were inspected by the law of H - W genetic equilibrium （p 〉 0. 05, p 〉 0. 01 ）, except of NPRC-S5 and NOS^3298（p 〈0. 01）. The minimum allele frequency （X） of the 6 EHT SNPs in Han population were 33.3%, 0, 16.7%, 50.0%,0, and0in0.4≤x≤0.5,0.3≤x〈0.4,0.2≤x〈0.3,0.1≤x〈0.2, 0〈x〈0.1 andx =0, respectively. The gene frequency of ACE^Aluwas significant difference between different genders, χ2 ,p = （ 10. 490, 0. 005 ）, and between normotension and hypertension people, χ2, p = （25. 784, 0. 001 ）. Conclusion The genotype of ACE^Alu might associated with EHT in Chinese Han population, and AGT^235 might have predict and diagnostic value in EHT.

关 键 词：原发性高血压 单核苷酸多态性 基因型 基因频率 

分 类 号：R394[医药卫生—医学遗传学]