Abstract
The HLA region encodes several molecules that play key roles in the immune system. Strong association between the HLA region and autoimmune disease (AID) has been established for over fifty years. Association of components of the HLA class II encoded HLA-DRB1-DQA1-DQB1 haplotype has been detected with several AIDs, including rheumatoid arthritis, type 1 diabetes and Graves disease. Molecules encoded by this region play a key role in exogenous antigen presentation to CD4+ Th cells, indicating the importance of this pathway in AID initiation and progression. Although other components of the HLA class I and III regions have also been investigated for association with AID, apart from the association of HLA-B*27 with ankylosing spondylitis, it has been difficult to determine additional susceptibility loci independent of the strong linkage disequilibrium (LD) with the HLA class II genes. Recent advances in the statistical analysis of LD and the recruitment of large AID datasets have allowed investigation of the HLA class I and III regions to be re-visited. Association of the HLA class I region, independent of known HLA class II effects, has now been detected for several AIDs, including strong association of HLA-B with type 1 diabetes and HLA-C with multiple sclerosis and Graves disease. These results provide further evidence of a possible role for bacterial or viral infection and CD8+ T cells in AID onset. The advances being made in determining the primary associations within the HLA region and AIDs will not only increase our understanding of the mechanisms behind disease pathogenesis but may also aid in the development of novel therapeutic targets in the future.
Keywords: Genes, autoimmunity, &, HLA
Current Genomics
Title: The HLA Region and Autoimmune Disease: Associations and Mechanisms of Action
Volume: 8 Issue: 7
Author(s): M. J. Simmonds and S. C.L. Gough
Affiliation:
Keywords: Genes, autoimmunity, &, HLA
Abstract: The HLA region encodes several molecules that play key roles in the immune system. Strong association between the HLA region and autoimmune disease (AID) has been established for over fifty years. Association of components of the HLA class II encoded HLA-DRB1-DQA1-DQB1 haplotype has been detected with several AIDs, including rheumatoid arthritis, type 1 diabetes and Graves disease. Molecules encoded by this region play a key role in exogenous antigen presentation to CD4+ Th cells, indicating the importance of this pathway in AID initiation and progression. Although other components of the HLA class I and III regions have also been investigated for association with AID, apart from the association of HLA-B*27 with ankylosing spondylitis, it has been difficult to determine additional susceptibility loci independent of the strong linkage disequilibrium (LD) with the HLA class II genes. Recent advances in the statistical analysis of LD and the recruitment of large AID datasets have allowed investigation of the HLA class I and III regions to be re-visited. Association of the HLA class I region, independent of known HLA class II effects, has now been detected for several AIDs, including strong association of HLA-B with type 1 diabetes and HLA-C with multiple sclerosis and Graves disease. These results provide further evidence of a possible role for bacterial or viral infection and CD8+ T cells in AID onset. The advances being made in determining the primary associations within the HLA region and AIDs will not only increase our understanding of the mechanisms behind disease pathogenesis but may also aid in the development of novel therapeutic targets in the future.
Export Options
About this article
Cite this article as:
Simmonds J. M. and Gough C.L. S., The HLA Region and Autoimmune Disease: Associations and Mechanisms of Action, Current Genomics 2007; 8 (7) . https://dx.doi.org/10.2174/138920207783591690
DOI https://dx.doi.org/10.2174/138920207783591690 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced Computational Algorithms and Artificial Intelligence in Clinical Pharmacogenomics
In the era of personalized medicine, understanding the relationship between genetics and drug response is crucial. This issue delves into innovative methodologies, leveraging deep computational analysis and artificial intelligence, to enhance the field of Clinical Pharmacogenomics. The interdisciplinary approach harnesses the power of advanced high-throughput genotyping technologies, sophisticated computational analysis, ...read more
Applications of Single-cell Sequencing Technology in Reproductive Medicine
Single cell sequencing (SCS) technology utilizes individual cells' genetic material to sequence their genome, transcriptome, and epigenetics at the molecular level. It offers insights into cell heterogeneity and enables the study of limited biological materials. Since its recognition as a valuable technique in 2011, single cell sequencing has yielded numerous ...read more
Big Data in Cancer Research
Cancer is a significant threat to human life and health, remaining a highly aggressive killer. It is a leading cause of death worldwide and represents a crucial medical issue for humanity. However, in the past decade, the effectiveness of new synthetic anticancer agents has not matched the current clinical speculation. ...read more
Current Genomics in Cardiovascular Research
Cardiovascular diseases are the main cause of death in the world, in recent years we have had important advances in the interaction between cardiovascular disease and genomics. In this Research Topic, we intend for researchers to present their results with a focus on basic, translational and clinical investigations associated with ...read more
Related Journals
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
Editorial (Hot Topic: Emerging Therapeutic Targets in Inflammation and Allergy Drug Discovery from Patent Perspective)
Recent Patents on Inflammation & Allergy Drug Discovery Hypoxia as an Initiator of Neuroinflammation: Microglial Connections
Current Neuropharmacology Gender Disparity in Pediatric Diseases
Current Molecular Medicine Nanotechnology and Antioxidant Therapy: An Emerging Approach for Neurodegenerative Diseases
Current Medicinal Chemistry Protease-Activated Receptor 2: Are Common Functions in Glial and Immune Cells Linked to Inflammation-Related CNS Disorders?
Current Drug Targets Coccidioidomycosis Involving the Cranium: A Case Report and Review of Current Literature
Infectious Disorders - Drug Targets The Need for Diagnostic Criteria in Systemic Vasculitis
Current Immunology Reviews (Discontinued) Prevention of Allergic Disease Development and Symptoms by Food Factors
Current Pharmaceutical Design The Rationale of Targeting Neutrophils with Dapsone during Glioblastoma Treatment
Anti-Cancer Agents in Medicinal Chemistry The Mammalian Innate Immune System: Potential Targets for Drug Development
Current Drug Targets - Immune, Endocrine & Metabolic Disorders Expression and Characterization of a Variant of TACI (CRD2-shortTACIFc) in Pichia pastoris
Protein & Peptide Letters Immunotherapy in Invasive Fungal Infection - Focus on Invasive Aspergillosis
Current Pharmaceutical Design Expanding the Therapeutic Potential of Statins by Means of Nanotechnology Enabled Drug Delivery Systems
Current Topics in Medicinal Chemistry The Anti-inflammatory Potential of the Filarial Nematode Secreted Product, ES-62
Current Topics in Medicinal Chemistry Tuftsin – Properties and Analogs
Current Medicinal Chemistry Computational Strategies for the Development of Novel Small Molecule Rheumatoid Arthritis Therapies
Anti-Inflammatory & Anti-Allergy Agents in Medicinal Chemistry Curcumin and Curcumin-like Molecules: From Spice to Drugs
Current Medicinal Chemistry Ebola Virus Altered Innate and Adaptive Immune Response Signalling Pathways: Implications for Novel Therapeutic Approaches
Infectious Disorders - Drug Targets Natural and Synthetic Inhibitors of Caspases: Targets for Novel Drugs
Current Drug Targets - CNS & Neurological Disorders Antigen Presentation by Dendritic Cells in Rheumatoid Arthritis
Current Topics in Medicinal Chemistry