开滦煤矿汉族人群原发性高血压遗传学调查

Genetic investigation of essential hypertension of Han populations in Kailuan coal mine

目的：研究血管紧张素原（AGT）基因在开滦煤矿汉族人群原发性高血压发病中的作用，探讨可能与高血压家族史有关的遗传易感性．方法：采用聚合酶链反应．限制性片段长度多态性（PCR—RFLP）的方法检测1224例开滦煤矿汉族人AGT基因T704C单核苷酸多态性；结合家族史分析了原发性高血压的家族遗传易感性及同AGT基因型之间的关系．结果：研究人群中，有家族史的高血压患病率为23．3％，明显高于无家族史患病率的14．8％（P〈0．01）；相对于野生TT基因型，携带有突变纯合子CC基因型的高血压患病率较高（OR=5．30，95％CI2．40～11．74）；而携带TC基因型的患病率虽亦高于TT基因型，差异无统计学意义（P〉0．05）；在有高血压家族史的研究人群中表现更显著（OR=13．56，95％CI2．96～62．18）．结论：遗传因素在开滦煤矿汉族人群原发性高血压发病中起重要作用，AGT基因可能是其重要易感基因之一．

AIM： To study the role that the angiotensinogen （AGT） gene plays in the pathogenesis of essential hypertension （EH） and investigate the possible association between the AGT gene and the susceptibility to EH in Han populations of Kailuan coal mine. METHODS： The polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） was used to detect the genotype frequency and polymorphism of the T704C SNP of AGT gene in 1224 individuals. The relationship between the AGT gene and the susceptibility to ET family was analyzed. RESUILTS： The prevalence of hypertension in the individuals with family EH history was higher than the ones without family EH history （23.3% vs 14.8%, P 〈0.01 ）. The prevalence of hypertension in the individuals carrying the homozygote for C alleles was higher compared to the individuals with wild type TT genotype （OR =5.30, 95%, CI：2.40 - 11.74） ; although the prevalence in the individuals carrying TC genotype was higher than the ones carrying TT genotype , there was no statistically difference （P 〉 0.05） ; the difference in the individuals with family EH history was more remarkable（ OR = 13.56, 95%, CI： 2.96 - 62.18 ）. CONCLUSION： Hereditary factor plays an important role in the development of EH and AGT gene may be one of the most key susceptibility genes of EH in Han populations of Kailuan coal mine.