吉林汉族人群ERAP1基因3′UTR单核苷酸多态性与原发性高血压的关联性分析  

Association between single nucleotide polymorphisms in 3′UTR of ERAP1 gene and essential hypertension in Jilin Han population

作　　者：杨四宝[1] 刘雪岩[1] 李冰[1] 丁梅[1] 贺玉泉[1] 杨萍[1] 

机构地区：[1]吉林大学中日联谊医院心内科,吉林长春130033

出　　处：《吉林大学学报（医学版）》2015年第2期383-388,共6页Journal of Jilin University：Medicine Edition

基　　金：国家自然科学基金资助课题(81270315);吉林省科技厅重点科技攻关项目资助课题(20140204016SF)

摘　　要：目的:探讨ERAP1基因在高血压患者外周血中的表达,鉴定ERAP1基因3′UTR区与原发性高血压有关联的候选单核苷酸多态性(SNPs)位点。方法:在吉林地区汉族人群中选取高血压患者300例(高血压组)及正常对照者233名(对照组)进行病例对照研究,采用ELISA法检测研究对象的外周血中ERAP1表达水平,混池测序法鉴定ERAP1基因3′UTR区SNPs位点,采用PCR测序的方法对研究对象进行测序分型。结果:高血压组患者外周血中ERAP1表达水平明显低于对照组(P<0.05);ERAP1基因3′UTR区鉴定出2个SNPs位点E20-790G>A和E20-816C>T,E20-816C>T位点的等位基因及基因型频数分布在高血压组和对照组间差异有统计学意义(P<0.05);排除混杂因素后,Logistic回归分析,E20-816C>T位点CT基因型频数在高血压组中显著降低(P<0.05,OR=0.145,95%CI:0.031-0.675)。结论:在吉林地区汉族人群中,ERAP1基因E20-816C>T位点多态性可能与原发性高血压有关联,高血压中CT基因型频数的降低可能与ERAP1表达下调有关联。Objective To explore the expression levels of ERAP1 gene in the peripheral blood of the essential hypertension patients,and to identify the single nucleotide polymorphisms（SNPs）in 3′UTR of ERAP1 gene associated with essential hypertension.Methods 300 patients with hypertension（hypertension group）and233normal controls（control group）were recruited to conduct a case-control study in Jilin Han population.The expression levels of ERAP1 in the peripheral blood of the objects were detected by ELISA method;the SNPs in3′UTR of ERAP1 gene were identified by pool-sequencing method;the genotyping was performed for each participant by PCR sequencing method.Results The expression levels of ERAP1 in the peripheral blood of the patients in hypertension group were significantly lower than those in control group（P〈0.05）.Two SNPs,E20-790G〉A and E20-816C〉T,were identified in 3′UTR of ERAP1 gene.The distribution of the genotypic and allelic frequencies of E20-816C〉T polymorphism was significantly different between hypertension group and control group（P〈0.05）.The Logistic regression results showed that adjusting for the confounding factors,the genotypic frequency of CT gene in hypertension group was decreased significantly（P〈0.05,OR=0.145,95% CI：0.031-0.675）.Conclusion E20-816C〉 T polymorphism may be related to essential hypertension in the Jilin Han population,and the decreasing genotypic frequency of CT gene may be related to the down-regulated expression of ERAP1.

关 键 词：原发性高血压 内质网氨基肽酶1 单核苷酸多态性 分子遗传学 关联研究 

分 类 号：R544.11[医药卫生—心血管疾病]