血管紧张素系统基因多态性与原发性高血压的相关研究

Association between angiotensin system gene polymorphism and essential hypertension

目的 探讨中国人血管紧张素原 (angiotensinogen,AGT)基因的蛋白产物 M2 35 T、血管紧张素 - 型受体 (AT1 R)基因的蛋白产物 A116 6 C以及血管紧张素转换酶 (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 16 1例 HT患者及 134名健康人 (normotensive controls,NT) ACE I/ D基因多态性、AGTM2 35 T及 AT1 R A116 6 C突变 ,并检测了血清 ACE活性。结果 HT组 ACE I/ D基因多态性等位基因频率 I为 0 .5 71,D为 0 .42 9,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 .0 5 ) ;<6 0岁 HT组 D等位基因频率 (0 .45 7)显著高于 NT组 (0 .35 8,P<0 .0 5 )。 HT组与 NT组的 AGT2 35 T分别为 0 .813及 0 .832 ,两组间差异无显著性。 AT1 RA116 6 C的 C等位基因频率 HT组为 0 .0 2 1,NT组为 0 .0 5 3,两组间差异无显著性 ;但在 <6 0岁 NT组 AGTM2 35 T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 AGT2 35 T对于 HT早期发病可能有重要意义 ,DD- TT及 ID-

Objective: To investigate whether angiotensinogen (AGT) M235T, angiotensin II type I receptor (AT1R) 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, AT1R 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 AT1R 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.