中国北方汉族人群β3-肾上腺素能受体基因Trp64Arg多态性与原发性高血压的相关性研究  

Association of β3-adrenergic receptor gene polymorphisms and essential hypertension in the Northern Han Chinese population

作　　者：王皓[1] 李梅[1] 王丽娟[1] 张蓓[1] 刘洁琳[1] 刘雅[1] 王佐广[1] 温绍君[1] 

机构地区：[1]首都医科大学附属北京安贞医院-北京市心肺血管疾病研究所高血压研究室,北京100029

出　　处：《心肺血管病杂志》2013年第1期41-45,共5页Journal of Cardiovascular and Pulmonary Diseases

基　　金：国家高技术研究发展计划(2008AA02Z441);北京市自然科学基金资助项目(重大项目)(7120001)

摘　　要：目的:探讨我国北方汉族人群β3-肾上腺素能受体基因单核苷酸多态性位点Trp64Arg与原发性高血压的相关性。方法:入选在北京安贞医院就诊的北方汉族原发性高血压患者855例(原发性高血压组,HT组),以及同期在安贞医院健康体检中心体检血压正常的受试者665例(正常血压对照组,NT组)。运用TaqMan等位基因分型技术,采用ABI7900基因检测平台对受试者ADRB3基因Trp64Arg位点进行检测,评估该多态性位点与我国北方汉族人群原发性高血压发病风险的关系。结果:HT组和NT组的ADRB3基因Trp64Arg位点基因型频率间,差异有统计学意义(P=0.017)。其中,ArgArg、ArgTrp及TrpTrp基因型在HT组和NT组的分布频率分别为1.29%/2.87%、30.25%/25.53%及68.46%/71.69%。多因素Logistic回归分析结果显示,除显性模型和等位基因模型外(显性模型:OR=1.233,95%CI=0.916～1.659,P=0.168;等位基因模型:OR=1.073,95%CI=0.828～1.390,P=0.595),各遗传模型均显示该多态性与原发性高血压发病密切相关(隐形模型:OR=0.343,95%CI=0.138～0.850,P=0.021;纯合子模型:OR=0.368,95%CI=0.147～0.921,P=0.033;加性模型:OR=0.374,95%CI=0.150～0.932,P=0.035;超显性模型:OR=1.412,95%CI=1.038～1.920,P=0.028)。根据性别进行的亚组分析中,仅在女性人群中发现该相关性(P=0.026)。根据超体质量/肥胖与否以及性别联合是否超体质量/肥胖进行的分层分析中,均未发现该相关性。结论:在本研究人群中,β3肾上腺素能受体基因Trp64Arg多态性可能与原发性高血压相关,Arg64Arg纯合子可能会降低高血压发病风险,杂合子Arg64Trp可能是高血压发病的危险因素。Objective：This study was aimed to determine whether the ADRB3 gene Trp64Arg polymorphism was associated with essential hypertension risk in the Northern Han Chinese.Methods：855 hypertensive subjects（HT group） and 665 healthy volunteers（NT group） were screened for the Trp64Arg polymorphism of ADRB3 gene by the TaqMan assay.Genotypes were differentiated by analyzing the fluorescence levels of PCR products using an ABI Prism 7900HT Sequence Detector.Results： The genotype frequencies of ArgArg,ArgTrp and TrpTrp in the HT group and NT group were significantly different（1.29%/2.87%,30.25%/25.53%,68.46%/71.69%,respectively）.Logistic regression analysis was performed after adjusting for confounding risk variable.And significant association could be found in recessive genetic model（OR=0.343,95% CI=0.138~0.850,P=0.021）,in homozygote comparison（OR=0.368,95% CI=0.147~0.921,P=0.033）,in additive genetic model（OR=0.374,95% CI=0.150~0.932,P=0.035） and in superdominant genetic model（OR=1.412,95% CI=1.038~1.920,P=0.028）.Subgroup analyses were performed by gender and showed that significant effect between Trp64Arg polymorphism and EH risk could be found only in females（P=0.026）.Stratification analyses were performed on both obese/non-obese and obese men/non-obese men/ obese women/non-obese women.But no significant result has been found.Conclusion： We concluded that ADRB3 gene Trp64Arg polymorphism might be associated with the EH risk in the Northern Han Chinese population.Arg64Arg might reduce the EH risk and Arg64Trp might increase the EH risk.

关 键 词：Β3-肾上腺素能受体 单核苷酸多态性 原发性高血压 

分 类 号：R544.11[医药卫生—心血管疾病]