Possible association of HLA-DRB1 gene with the autoantibody against myocardial mitochondria ADP/ATP carrier in dilated cardiomyopathy

Wang, Qiufen; Liao, Yuhua; Gong, Feili; Huan-yuan, Mao; Zhang, Jinzhi

doi:10.1007/bf02828188

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…This category often includes cardiomyopathy caused as a result of general systemic disorders where symptoms are not wholly associated with the heart [ 5 ]. HLA-DRB1*0901 allele has also been associated with a number of DCM patients, which suggested that mitochondrial ADP/ATP plays a large role in appropriate functionality of the heart [ 110 ]. It has also been shown that mitochondrial mutations are associated with changes in cardiomyopathy forms.…”

Section: Mitochondrial X Linked and Peripartum Cardiomyopathiesmentioning

confidence: 99%

Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Simpson

Rutland

2017

Veterinary Sciences

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In the global human population, the leading cause of non-communicable death is cardiovascular disease. It is predicted that by 2030, deaths attributable to cardiovascular disease will have risen to over 20 million per year. This review compares the cardiomyopathies in both human and non-human animals and identifies the genetic associations for each disorder in each species/taxonomic group. Despite differences between species, advances in human medicine can be gained by utilising animal models of cardiac disease; likewise, gains can be made in animal medicine from human genomic insights. Advances could include undertaking regular clinical checks in individuals susceptible to cardiomyopathy, genetic testing prior to breeding, and careful administration of breeding programmes (in non-human animals), further development of treatment regimes, and drugs and diagnostic techniques.

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Section: Mitochondrial X Linked and Peripartum Cardiomyopathiesmentioning

confidence: 99%

Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Simpson

Rutland

2017

Veterinary Sciences

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Association of HLA class II DRB1, DPA1 and DPB1 polymorphism with genetic susceptibility to idiopathic dilated cardiomyopathy in Chinese Han nationality

Liu

Yang

et al. 2006

Autoimmunity

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Although the aetiology of idiopathic dilated cardiomyopathy (IDC) remains unclear, many immunological abnormalities involving changes in cell-mediated and humoral immunity may be associated with cardiac impairment in IDC. Autoimmune mechanisms are likely to participate in the pathogenesis of at least a subgroup of 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, which are highly polymorphic, play an important role in the activating of immune responses and thus control the predisposition for or protection from IDC. This study explores the possible contribution of HLA-DRB and DP polymorphisms to IDC susceptibility. DNA genotyping for HLA-DRB1, DPA1 and DPB1 was performed using polymerase chain reaction-sequencing based typing (PCR-SBT) method in 198 IDC patients and 136 random selected healthy Han ethnic individuals living in Northern China. IDC patients were, sub-grouped into asymptomatics (subgroup A), with arrhythmia (subgroup B) and with overt congestive heart failure (subgroup C) according to the clinical manifestations and electrocardiogram or echocardiographic characteristics. ADP/ATP autoantibody was detected in IDC group by immunoblot analysis. The results revealed that HLA-DR15, -DPB*0601 frequencies were significantly elevated in IDC group compared with normal control. The DPB1*0601 allele in homozygous form or in combination with allele DPB1*2301 or *3901, was found present more often in IDC patients. The predominance of HLA-DR4 allele was observed in subgroup B after stratification. However, the frequency of DPB1*0101 allele increased in the control than in the IDC group. The frequency of HLA-DPB1*0601 allele was significantly higher in IDC patients with positive autoantibody against ADP/ATP carrier of myocardial mitochondria in contrast to those with negative autoantibody. We conclude that HLA-DR4, -DR15, -DPB1*0601 alleles confers susceptibility to, while DPB1*0101 allele confers protection from IDC among individuals of northern Chinese Han nationality. The glutamate at position 69 in the second exon of DPB1*0601, as a key residue for special conformation of HLA-DP, may confer predisposition to IDC. HLA-DR and -DP alleles polymorphisms may serve as genetic markers for IDC and be involved in the regulation of the immune specific response to auto or exterior anti-myocardium antibodies.

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Possible association of HLA-DRB1 gene with the autoantibody against myocardial mitochondria ADP/ATP carrier in dilated cardiomyopathy

Cited by 2 publications

References 14 publications

Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review

Association of HLA class II DRB1, DPA1 and DPB1 polymorphism with genetic susceptibility to idiopathic dilated cardiomyopathy in Chinese Han nationality

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