内皮素1基因多态性与原发性高血压的病例对照研究
Case-control Study of the Genetic Polymorphism of Endothelin-1 Gene and Essential Hypertension
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摘要: 为探讨重庆市某社区人群内皮素1(Endothelin-1,ET-1)基因G8002A,+138A/-两个位点基因多态性与原发性高血压(Essential hypertension,EH)的相关性,采用PCR-RFLP和PCR-SSP方法分别检测95名EH患者及150名血压正常者组(NT)的G8002A和+138A/-基因多态性.结果发现:在EH组中发现+138A/-位点基因型与舒张压相关(p=0.005),其中4A4A型舒张压比3A3A型高13 mmHg(p=0.005),比3A4A型高12 mmHg(p=0.04).将G8002A与+138A/-位点联合分析后发现舒张压在EH病人中GA4A4A型较其他几型平均高达近20 mmHg.呈显著相关性(p<O.01).认为ET-1基因+138A/-的A插入型变异位点可能与重庆市EH人群的舒张压水平有关,GA4A4A基因型人群可能是EH患者血压升高的一个高危遗传因素.
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关键词:
- 原发性高血压,内皮素-1基因,基因多态性
Abstract: Objective: To investigate the association of the polymorphism of G8002A and+138A/-of the Endothelin-1 gene with essential hypertension(EH)in a sub-population of Chongqing.Methods: A casecontrol study was conducted using PCR-RFLP and PCR-SSP techniques to explore the ET-1 gene G8002A and+138A/-polymorphism in 95 essential hypertensives(EH group)and 150 normotensives(NT group)of Chongqing.Result: In the EH group,+138A/-gene variants influenced diastolic blood pressure(DBP)(p=0.005),and DBP in individuals with 4A4A carriers of+138A/-was 13 mm Hg higher than that in3A3A carriers(p=0.005)and 12 mm Hg higher than that in 3A4A carriers(p=0.04).An analysis of combined genotypes of G8002A and+138A/-showed that the combined genotypes of GA4A4A had about20 mm Hg higher DBP than other combined genotypes in the EH group(p<0.01)Conclusion:+138A/-polymorphism may be involved in the increasing DBP level in EH in Chongqing population and the GA4A4A genotype might be a genetic risk factor for blood pressure raising in hypertensives. -
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