Lozano M D, Rubocki R J, Wilson J E, McManus B M, Wisecarver J L
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, USA.
J Card Fail. 1997 Jun;3(2):97-103. doi: 10.1016/s1071-9164(97)90041-5.
Idiopathic dilated cardiomyopathy (IDC) is a disease of unknown etiology for which immune abnormalities, possibly related to viral infections, are suspected but unproven. Previous serologic studies have reported associations between human leukocyte antigen DR4 and IDC. A molecular study of human leukocyte antigen associations was undertaken in patients with IDC to further explore the possibility of susceptibility markers of genetically determined disease.
In this study, 36 patients from the Myocarditis Treatment Trial (32 IDC and 4 myocarditis patients) were examined using restriction fragment length polymorphism analysis and polymerase chain reaction amplification with sequence-specific primers to perform class II typing. All 4 myocarditis patients were DQ5 positive and 3 possessed the allele DQB1*0501. In the IDC group, the frequency of human leukocyte antigen DR4 was similar to that reported in the normal population. In addition, there was no excess prevalence of any molecularly defined DR4 alleles (0401-0419). There was an increase in the frequency of DR12 in IDC patients. The frequencies of the alleles DQB1 0503 and DQB10301 and/or *0304 were also increased in IDC patients versus the normal population.
The molecular studies point to a relationship between the DQ locus and IDC.
特发性扩张型心肌病（IDC）是一种病因不明的疾病，怀疑其存在与病毒感染可能相关的免疫异常，但尚未得到证实。既往血清学研究报道了人类白细胞抗原DR4与IDC之间的关联。对IDC患者进行了人类白细胞抗原关联的分子研究，以进一步探索遗传决定疾病的易感性标志物的可能性。
在本研究中，使用限制性片段长度多态性分析和序列特异性引物的聚合酶链反应扩增对来自心肌炎治疗试验的36例患者（32例IDC患者和4例心肌炎患者）进行II类分型检测。所有4例心肌炎患者均为DQ5阳性，3例携带等位基因DQB10501。在IDC组中，人类白细胞抗原DR4的频率与正常人群中报道的频率相似。此外，任何分子定义的DR4等位基因（0401 - 0419）均无过高的流行率。IDC患者中DR12的频率有所增加。与正常人群相比，IDC患者中等位基因DQB1 0503和DQB10301和/或0304的频率也有所增加。
分子研究表明DQ基因座与IDC之间存在关联。
