HLA associated genetic predisposition to autoimmune diseases: Genes involved and possible mechanisms

Thorsby, E.; Lie, Benedicte A.

doi:10.1016/j.trim.2005.03.021

Cited by 162 publications

(144 citation statements)

References 38 publications

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“…We also confirmed DQA1*0501 as a risk factor for juvenile DM, although this allele was not as strongly associated in the multivariable analyses. Our results suggest that, as is the case in adult DM, the association of DQA1*0501 as a risk factor is likely the result of its linkage disequilibrium with DRB1*0301 (6,8,18).…”

Section: Discussionsupporting

confidence: 53%

Immunogenetic risk and protective factors for juvenile dermatomyositis in Caucasians

Mamyrova

O’Hanlon

Monroe

et al. 2006

Arthritis & Rheumatism

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Objective. To define the relative importance (RI) of class II major histocompatibility complex (MHC) alleles and peptide binding motifs as risk or protective factors for juvenile dermatomyositis (DM), and to compare these with HLA associations in adult DM.Methods. DRB1 and DQA1 typing was performed in 142 Caucasian patients with juvenile DM, and the results were compared with HLA typing data from 193 patients with adult DM and 797 race-matched controls. Random Forests classification and multiple logistic regression were used to assess the RI of the HLA associations.Results. The HLA-DRB1*0301 allele was a primary risk factor (odds ratio [OR] 3.9), while DQA1*0301 (OR 2.8), DQA1*0501 (OR 2.1), and homozygosity for DQA1*0501 (OR 3.2) were additional risk factors for juvenile DM. These risk factors were not present in patients with adult DM without defined autoantibodies. DQA1 alleles *0201 (OR 0.37), *0101 (OR 0.38), and *0102 (OR 0.51) were identified as novel protective factors for juvenile DM, the latter 2 also being protective factors in adult DM. The peptide binding motif DRB1 9 EYSTS 13 was a risk factor, and DQA1 motifs F 25 , S 26 , and 45 (V/A)W(R/K) 47 were protective. Random Forests classification analysis revealed that among the identified risk factors for juvenile DM, DRB1*0301 had a higher RI (100%) than DQA1*0301 (RI 57%), DQA1*0501 (RI 42%), or the peptide binding motifs. In a logistic regression model, DRB1*0301 and DQA1*0201 were the strongest risk and protective factors, respectively, for juvenile DM.Conclusion. DRB1*0301 is ranked higher in RI than DQA1*0501 as a risk factor for juvenile DM. DQA1*0301 is a newly identified HLA risk factor for juvenile DM, while 3 of the DQA1 alleles studied are newly identified protective factors for juvenile DM.

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Section: Discussionsupporting

confidence: 53%

Immunogenetic risk and protective factors for juvenile dermatomyositis in Caucasians

Mamyrova

O’Hanlon

Monroe

et al. 2006

Arthritis & Rheumatism

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“…In the ARMD genetic and inflammatory factors are involved as much in the beginning as in the development of this pathology (8,11). The genetic polymorphism of the HLA and its importance in the immune response, would explain the high number of associations found between certain HLA alleles and different immune diseases (24)(25)(26).…”

Section: Discussionmentioning

confidence: 99%

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

et al. 2009

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To research whether specific alleles HLA class I (HLA-A and HLA-B) and class II (HLA-DR) are risk factors for the development of exudative type of Age Related Macular Degeneration (ARMD), HLA antigens are expressed both in normal and affected eyes with ARMD. We designed a prospective case-controlled study. We recruited 75 patients with choroidal neovascularization predominantly classic or occult, secondary to ARMD, and treated with photodynamic therapy. Two hundred and fifty patients over 55 years old, without ophthalmologic pathology who went to hospital for an analytical routine check were used as control. The analysis of the data shows a significant difference between two groups. Allele HLA-B27 correlated positively with ARMD (p < 0.0113). However, we didn't find alleles negatively associated. Thus HLA-B27 is an allele predisposed to suffer ARMD. Cellular & Molecular Immunology. 2009;6(4):303-307.

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“…These diseases are chronic and debilitating and many of them their treatments are available but are inadequate [2]. Therefore, this could help in the greater understanding of the disease mechanisms, pathogenesis and the development of new therapeutic agents [3].…”

Section: Introductionmentioning

confidence: 99%

Relationship between HLA Typing and Different Diseases in IRAQ

Mahdi¹

2013

Clon Transgen

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Human leukocyte antigen system is the major histocompatibility complex in humans, which includes several hundreds of genes located in a highly polymorphic region of chromosome 6 that encode for proteins critical for the immune system. HLA Class I antigens (A, B and C) transport and present peptides produced by degradation of proteins inside the cell like viral antigens, to CD8+ T cells, in addition to that the HLA Class I, carry also foreign or not-self antigens. Under normal conditions, these T -cell CD 8+ cells recognize but do not destroy those cells with the right "self"Ag, unless they also carry a non-self antigen. Under pathological conditions, like in certain autoimmune diseases T cells can destroy cells carrying self-antigens, causing autoimmune diseases. The role of HLA Class II antigens (DRB1, DRB3,4,5, DQA1/DQB1, DPB1) is to present the peptides from processed proteins that are produced outside the cell, derived from bacteria and protozoa, to helper T-cells CD4+ to stimulate their multiplication. These helper T cells then stimulate B-cells to produce antibodies against the foreign antigens. HLA and disease associations have been widely studied across the populations worldwide and are found to be important in prediction of disease susceptibility, resistance or protective and of evolutionary maintenance of genetic diversity. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, and other diseases with unknown etiology in Iraq and attempt to summarize some remarkable HLA alleles related with specific diseases.

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HLA associated genetic predisposition to autoimmune diseases: Genes involved and possible mechanisms

Cited by 162 publications

References 38 publications

Immunogenetic risk and protective factors for juvenile dermatomyositis in Caucasians

Immunogenetic risk and protective factors for juvenile dermatomyositis in Caucasians

HLA B27 as Predisposition Factor to Suffer Age Related Macular Degeneration

Relationship between HLA Typing and Different Diseases in IRAQ

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