肥厚型心肌病患者血管紧张素原M235T基因多态性研究

ANGIOTENSINOGEN M235T GENE POLYMORPHISMS IN HYPERTROPHIC CARDIOMYOPATHY

目的 :探讨中国人群血管紧张素原 (AGT)基因多态性与肥厚型心肌病 (HCM )发病的关系。方法 :应用PCR技术扩增AGT基因目的片断 ,检测基因多态性。结果 :HCM患者的AGTT等位基因频率高于对照组(P <0 .0 5 ) ,HCM患者中同时具有AGTT等位基因和血管紧张素转换酶 (ACE)缺失 (D)等位基因及AGTTT+ACEDD基因型者明显高于对照组 (P <0 .0 1,P <0 .0 5 ) ,DD +TT基因型的HCM患者心脏事件发生率高于其它基因型组合者和AGTTT型者 (P <0 .0 1,P <0 .0 1)。结论 :AGTT等位基因是HCM的危险因素 ,AGTT和ACED等位基因及TT和DD基因型对HCM发病具有协同作用 ,具有ACEDD +AGTTT基因型的HCM患者有较严重的临床表型。

Objective:To investigate the relation between the contribution of the angiotensinogen (AGT) gene polymorphisms and hypertrophic cardiomyopathy (HCM). Methods:The polymorphism of AGT gene was analyzed with polymerase chain reaction (PCR). Results:T-allele frequencies were higher in HCM patients than those in control subjects( P <0.05). In HCM patients, the odds ratios (OR) of both with AGT T and angiotensin converting enzyme (ACE) deletion (D) alleles and both with TT and DD genotypes were markedly higher than those in control subjects( P <0.01, P <0.05). The risk of cardiac events was higher in HCM patients with both TT and DD genotype than that in HCM patients with both other AGT and ACE genotypes and also higher than that in HCM patients with TT genotype only( P <0.01, P <0.01).Conclusions:The AGT gene polymorphisms are associated with HCM.The T and D alleles and TT and DD genotypes should have synergistic effect on the risk of HCM in Chinese people. The risk of cardiac event was much higher in HCM patients with both TT and DD genotypes.