扩张型心肌病HLA-DQA1等位基因多态性研究

目的　探讨扩张型心肌病 (IDC)的遗传背景及免疫学发病机制。方法　采用聚合酶链反应 序列特异性引物 (PCR SSP)技术对 38例IDC患者、5 0例病因明确的心力衰竭 (HF)患者及 10 0例正常对照进行HLA DQA1等位基因分型 ,研究其多态性。结果　IDC组HLA DQA1 0 5 0 1基因频率(2 8次 )显著高于HF组 (14次 )及正常对照组 (2 2次 ) (P <0 0 5 ) ,该趋势随射血分数降低而愈趋明显 ;HF组HLA DQA1 0 30 1也有较其他两组增高趋势 (P >0 0 5 ) ;而对照组HLA 0 2 0 1及 0 10 3基因频率分别高于IDC及HF组 (P <0 0 5 )。结论　HLA DQA1 0 5 0 1是IDC相关基因 ,HLA DQA1 0 30 1与充血性心力衰竭的发生相关 ;HLA DQA1 0 10 3和HLA DQA1 0 2 0 1与IDC及HF组分别呈负相关 ,表明IDC与其他病因所致心力衰竭可能存在不同的免疫遗传学发病机制。

HLA-DQA1 gene polymorphism in idiopathic dilated cardiomyopathy

Objective To explore the immunological mechanism in the pathogenesis of idiopathic dilated cardiomyopathy Methods The alleles of HLA DQA1 were typed by polymerase chain reaction sequence specific primers (PCR SSP)technique in 38 idiopathic dilated cardiomyopathy (IDC) patients (7 women and 31 men, aged from 17 to 56 years, with diagnosis made according to World Health Organization criteria), in the group of 50 patients (18 women and 32 men, aged from 34 to 72 years, with end stage heart failure of known etiology) and in the control group consisting of 100 presumably healthy subjects (39 women and 61 men, from the health survey, aged from 30 to 59 years) All subjects were from Heilongjiang Province Results The frequency of HLA DQA1*0501 in the IDC patients was significantly elevated compared with those of the heart failure and the control groups Molecular analysis of the DQA1 gene polymorphism performed in the three subgroups showed an increased frequency of DQA1*0501 among patients with lower ejection fraction The heart failure group carried a high frequency of the allele of HLA DQA1*0301 An increased frequency of DQA1*0103 was found in the control group Conclusion HLA DQA1*0501 and HLA DQA1*0301 are susceptible genes respective for idiopathic dilated cardiomyopathy and the known etiologic heart failure, indicating that the mechanisms involved in the pathogenesis of IDC and other heart failure may be different