血管紧张素系统基因多态性与原发性高血压的相关研究

目的：探讨中国人血管紧张素原（angiotensinogen,AGT)基因的蛋白产物M235T、血管紧张素Ⅱ-I型受体（AT1R)基因的蛋白产物A1166C以及血管紧线素转换酶（angiotensin convertingenzyme,ACE)基因I／D多态性与高血压病（hypertension,HT)的关系。方法：用PCR以及PCR加酶解方法检测了161例HT患者及134名健康人（normotensive controls,NT)ACEI/D基因多态性、AGTM235T及AT1RA1166C突变，并检测了血清ACE活性。结果：HT组ACEI／D基因多态性等位基因频率I为0．571，D为0．429，等位基因频率及基因型频率与NT组比较差异无显著性（P＞0．05）；＜60岁HT组D等位基因频率（0．457)显著高于NT组（0．358，P＜0．05）。HT组与NT组的AGT235T分别为0．813及0．832，两组间差异无显著性。AT1RA1166C的C等位基因频率HT组为0．021，NT组为0．053，两组间差异无显著性；但在＜60岁NT组AGTM235T显著高于NT组。两组中均发现ACE基因型与血清ACE活性相关。HT组DD－TT及ID－TT联合基因型显著高于对照组。结论：D等位基因及AGT235T对于HT早期发病可能有重要意义，DD－TT及ID－TT基因型人群可能是高血压发病的高危人群。

Association between angiotensin system gene polymorphism and essential hypertension

OBJECTIVE: To investigate whether angiotensinogen(AGT) M235T, angiotensin II type I receptor(AT(1)R) gene A1166C and angiotensin converting enzyme(ACE) gene I/D polymorphism are implicated in human essential hypertension(HT) in Chinese. METHODS: Polymerase chain reaction(PCR) and PCR combined with restriction enzyme digestion were used to detect AGT gene M235T, AT(1)R gene A1166C variations and ACE gene I/D polymorphism in 161 hypertensive patients and 134 normotensive controls. RESULTS: No statistically significant differences were found in frequencies of the ACE D allele, AGT gene 235T and AT(1)R A1166C between hypertensive patients and normotensive controls, but in hypertensive patients aged <60 years the frequencies of the ACE D allele and AGT gene 235T were significantly higher than those of the normotensive controls (P<0.05). The analysis of combined genotypes of AGT gene and ACE gene showed that the combined genotypes of DD-TT and ID-TT were significantly higher in hypertensive patients than in normotensive controls. Significant relationships between the ACE genotype and serum ACE activity were found in both groups(P<0.05). CONCLUSION: The ACE D allele and AGT 235T polymorphism may be involved in the early occurrence of HT. The combined genotypes of DD-TT and ID-TT may be a dangerous genetic factor for HT in Chinese.