肾素-血管紧张素系统基因多态性与冠状动脉血栓疾病

Gene Polymorphisms of Rennin-Angiotensin System and Coronary Artery Thrombosis Disease

为了观察中国人群中肾素 血管紧张素系统基因多态性的分布特征 ,并分析这些基因多态性与冠状动脉血栓 (CATD)疾病的相关性以及该基因多态性间的相互作用 ,采用直接聚合酶链式反应 (PCR)和PCR -限制性片段长度多态性 (PCR RFLP)方法对 192例冠状动脉血栓疾病患者和 110例对照组个体进行血管紧张素转换酶(ACE)、血管紧张素原 (AGT)和血管紧张素III型受体 (AT1R)基因的基因多态性进行检测。结果表明 :①在中国人群中 ,ACE基因各基因型分布分别为DD12 .2 %、ID4 3.9%和II4 3.9% ;AGT基因各基因型分布为MM 8.2 % ,MT 36 7%和TT 5 5 .1% ;AT1R基因各基因型分布分别为AA 91.8%和AC 8.2 %。②冠状动脉血栓疾病组与对照组相比 ,上述 3种基因多态性的分布均无明显差异。③同时携带AT1R AC和AGT TT基因型的个体 ,与AT1R AA和AGT TT基因型个体相比 ,罹患CATD的相对危险度达到 3.5 17(95 %CI 0 .988- 12 .5 2 7) ;与AC基因型和非TT基因型个体相比 ,罹患CATD的危险性可增加至 15 .0 0 0 (95 %CI 1.94 0 - 115 .96 3) ;在AT1R AC基因型个体 ,等位基因D在CATD组和对照组的分布亦存在有明显的差异 (P =0 .0 17)。结论 :我国人群ACE基因I D多态性、AGT基因M 2 35T多态性和AT1R基因A116 6C多态性各基因型和等位基因的分布?

To investigate the distribution frequencies of an giotensin-converting enzyme (ACE), angiotensinogen (AGT), angiotensin Ⅱ Ⅰtype receptor (AT1R) gen otypes in Chinese, to find the relationships between polymorphisms of ACE, AG T and AT1R gene, and coronary artery thrombosis disease (CATD) and to study the interactions of themselves, PCR and PCR-RFLP techniques were performed to determine the genotypes of ACE, AGT and AT1R gene in CATD group (192 cases) and control gr o up (110 cases). The results showed that (1) genotype frequencies of the thr ee polymorphisms in the control group were 12.2% (DD), 43.9% (ID), and 43.9% (II) for the ACE I/D polymo rphism; 8.2% (MM), 36.7% (MT), and 55.1% (TT) for AGT M235T polymorphism; 91.8% (AA), 8.2% (AC) for AT1R A1166C polymorphism respectively; (2) there were no si gn ificant differences between patients in either the control group, the non-MI gr oup, or the MI group in any genotype frequency of all these three genes (P> 0.05). (3) the odds ratio for CATD in subjects carrying both AT1R-AC and AGT- TT genotype was 3.517 (95% CI 0.988-12.527), compared with those carrying AT1R -AA and AGT -TT g enotype and was 15.000(95% CI 1.940-115.963), compared with those carrying AT1 R-A C and AGT-MM/MT genotype. In subjects with AT1R-AC genotype, there was also a gr eat difference of ACE D allele frequency between control group and CATD group ( P=0.017). It is concluded that genotype frequencies of ACE I/D p olymorphism, AGT M235T polym orphism, and AT1R A1166C polymorphism were obviously different from those in wes tern countries. Although these three polymorphisms were not independent risk fac tors for CATD or myocardial infarction (MI) in Chinese, AT1R-AC genotype has a significant synergistic ef fect with AGT-TT genotype. There is also a obvious interaction between AT1R-A C genotype and ACE D allele.