HLA - DQB1基因可能参与人类扩张型心肌病的易感性和抗性。

Possible involvement of the HLA-DQB1 gene in susceptibility and resistance to human dilated cardiomyopathy.

作者信息

Limas C J, Limas C, Goldenberg I F, Blair R

机构信息

Department of Medicine, University of Minnesota School of Medicine, Minneapolis 55455, USA.

出版信息

Am Heart J. 1995 Jun;129(6):1141-4. doi: 10.1016/0002-8703(95)90395-x.

DOI:10.1016/0002-8703(95)90395-x

PMID:7754945

Abstract

There is evidence that autoimmunity plays a role in the pathogenesis of dilated cardiomyopathy and that susceptibility to the disease is related to products of human leukocyte antigens (HLA) class II genes. We compared the distribution of HLA-DQA1 and -DQB1 alleles and haplotypes in 44 normal controls and 34 patients with idiopathic dilated cardiomyopathy patients. The distribution of two DQA1-DQB1 haplotypes (*0102-*0604 and *0102-*0501) were more frequent in the patients. Histidine at position 30 of the HLA-DQB1 gene was associated with disease (62% of patients compared to 36% of controls), whereas homozygosity for leucine at position 26 was more frequent in controls (36% vs 18% of patients). There was no correlation between HLA-DQA1-DQB1 haplotypes and the presence of anti-beta-receptor antibodies. These results suggest that the HLA-DQB1 gene is involved in the pathogenesis of human dilated cardiomyopathy.

摘要

有证据表明自身免疫在扩张型心肌病的发病机制中起作用，且该疾病的易感性与人类白细胞抗原（HLA）II类基因产物有关。我们比较了44名正常对照者和34名特发性扩张型心肌病患者中HLA - DQA1和 - DQB1等位基因及单倍型的分布。两种DQA1 - DQB1单倍型（*0102 - 0604和0102 - *0501）在患者中更为常见。HLA - DQB1基因第30位的组氨酸与疾病相关（患者中占62%，对照者中占36%），而第26位亮氨酸的纯合性在对照者中更为常见（患者中占18%，对照者中占36%）。HLA - DQA1 - DQB1单倍型与抗β受体抗体的存在之间无相关性。这些结果表明HLA - DQB1基因参与了人类扩张型心肌病的发病机制。