|Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy|
|Liu, W; Li, WM; Sun, NL|
|关键词||polymorphism idiopathic dilated cardiomyopathy|
|刊名||CHINESE MEDICAL JOURNAL|
|WOS标题词||Science & Technology|
|类目[WOS]||Medicine, General & Internal|
|研究领域[WOS]||General & Internal Medicine|
Background Autoimmune mechanisms are likely to participate in the pathogenesis of subgroup of idiopathic dilated cardiomyopathy ( IDC), and components of the major histocompatibility complex may serve as markers for the propensity to develop immune-mediated myocardial damage. Human leukocyte antigen ( HLA) class II genes especially highly polymorphic HLA-DQ genes, play an important role in the activation of immune responses, and thus control the predisposition for or protect from IDC. This study was conducted to investigate the HLA-DQA1 allele polymorphisms in IDC patients and to explore the underlying immunological mechanism and the hereditary susceptibility to IDC.
Methods The polymerase chain reaction sequence-specific primers (PCR-SSP) technique was used to analyze the polymorphisms in the second exon of DQA1 in three groups: 72 IDC patients diagnosed according to the criteria of World Health Organization ( IDC group); 100 end-stage heart failure patients suffering from a disease of known etiology ( HF group); and 100 healthy subjects enrolled for the study during a routine health survey ( control group). Patients in the IDC group were stratified according to ejection fraction ( EF). Those with EF values were higher than 35% were placed into subgroup 1; subgroup 2 included patients with an EF value of 15% -35%; and subgroup 3 consisted of those whose EF values less than 15%.
Results The frequency of HLA-DQA1 *0501 alleles was significantly higher in the IDC group (0.39) than that in the HF group (0.12) and the control group (0.09) (both P < 0.05). Further analysis of the three IDC subgroups showed a higher frequency of DQA1 * 0501 among patients with lower EF values (both P < 0.05, compared with subgroups 1 and 2). The frequency of DQA1 *0201 was higher in the control group than that in the IDC group ( P < 0.05).
Conclusions The HLA-DQA1 *0501 allele confers susceptibility to IDC, while the DQA1 *0201 allele confers protection against it, which indicates that genetic background involved in IDC and heart failure is different. HLA-DQA1 genes are involved in the regulation of specific immune responses by auto- or foreign anti-myocardium antibody.
|作者单位||1.Harbin Med Coll, Affiliated Hosp 1, Dept Cardiol, Harbin 150001, Peoples R China|
2.Peking Univ, Peoples Hosp, Dept Cardiol, Beijing 100044, Peoples R China
|Liu, W,Li, WM,Sun, NL. Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy[J]. CHINESE MEDICAL JOURNAL,2004,117(10):1449-1452.|
|APA||Liu, W,Li, WM,&Sun, NL.(2004).Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy.CHINESE MEDICAL JOURNAL,117(10),1449-1452.|
|MLA||Liu, W,et al."Relationship between HLA-DQA1 polymorphism and genetic susceptibility to idiopathic dilated cardiomyopathy".CHINESE MEDICAL JOURNAL 117.10(2004):1449-1452.|