中国南方汉族人群特发性扩张型心肌病与 ACE 基因多态性的关系

摘要

目的：探讨血管紧张素转换酶（ ACE）基因rs4646994多态性与中国南方汉族人群特发性扩张型心肌病（ IDC）的相关性。方法选择中国南方64例汉族IDC患者（ IDC）和120例健康查体者（对照组），采集两组空腹外周静脉血，RT-PCR方法检测血中ACE基因rs4646994多态性，紫外分光光度计测定血浆ACE水平。结果 IDC患者ACE基因的DD基因型和D等位基因频率分别为28．13％、50．79％，高于对照组的10．00％、33．75％（ P均＜0．05），ID、II基因型与I等位基因频率与对照组比较差异无统计学意义（P均＞0．05）。在IDC组和对照组组内， DD基因型人群血浆ACE水平高于ID、II基因型（P＜0．05或＜0．01）；两组相同基因型人群血浆ACE水平比较，P均＞0．05。结论 ACE基因I／D多态性与IDC具有相关性，ACE基因DD基因型和D等位基因会增加中国南方汉族人群发生IDC的危险性。%Objective To explore the relationship between angiotensin-converting enzyme ( ACE ) rs4646994 gene polymorphism and idiopathic dilated cardiomyopathy ( IDC) in patients of south China .Methods We collected 64 IDC pa-tients in south China as the IDC group and 120 healthy persons as the control group , then investigated the ACE rs4646994 genotype in the fasting peripheral venous blood collected from the two groups by RT -PCR and detected the ACE concentra-tion in the plasma by UV spectrophotometer .Results In the IDC group, the frequency of DD genotype was 28.13%, which was significantly higher than that of the control group (10.00%) and the frequency of D allele was 50.79%, which was significantly higher than that of the control group (33.75%) (all P<0.05), but there was no significant difference in ID genotype, II genotype and I allele (all P>0.05).In the IDC group and control group , the ACE concentration in pa-tients with DD genotype was significantly higher than that of patients with ID genotype and II genotype ( P<0.05 or P<0.01), but no significant difference was found in the ACE concentration among the people with the same genotypes (all P>0.05).Conclusion The insertion/deletion polymorphism of ACE gene is associated with IDC , and the DD genotype and D allele of ACE gene may probably increase south China Han population at risk of IDC .