Abstract
Systemic Lupus Erythematosus (SLE) is one of the most relevant world-wide autoimmune disorders. The formation of autoantibodies and the deposition of antibody-containing immune complexes in blood vessels throughout the body is the main pathogenic mechanism of SLE leading to heterogeneous clinical manifestations and target tissue damage. The complexity of etiology and pathogenesis in SLE, enclosing genetic and environmental factors, apparently is one of the greatest challenges for both researchers and clinicians. Strong indications for a genetic background in SLE come from studies in families as well as in monozygotic and dizygotic twins, discovering several SLE-associated loci and genes (e.g. IRF5, PTPN22, CTLA4, STAT4 and BANK1). As SLE has a complex genetic background, none of these genes is likely to be entirely responsible for triggering autoimmune response in SLE even if they disclosure a potentially novel molecular mechanisms in the pathogenesis' disease. The clinical manifestations and disease severity varies greatly among patients, thus several studies try to associate clinical heterogeneity and prognosis with specific genetic polymorphisms in SLE associated genes. The continue effort to describe new predisposing or modulating genes in SLE is justified by the limited knowledge about the pathogenesis, assorted clinical manifestation and the possible prevention strategies. In this review we describe newly discovered, as well as the most studied genes associated to SLE susceptibility, and relate them to clinical manifestations of the disease.
Keywords: Autoimmunity, B cells, Clinical manifestations, DSBs, IFN, SLE, SNPs, T cells.
Current Genomics
Title:Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations
Volume: 15 Issue: 1
Author(s): J. De Azevedo Silva, C. Addobbati, P. Sandrin-Garcia and S. Crovella
Affiliation:
Keywords: Autoimmunity, B cells, Clinical manifestations, DSBs, IFN, SLE, SNPs, T cells.
Abstract: Systemic Lupus Erythematosus (SLE) is one of the most relevant world-wide autoimmune disorders. The formation of autoantibodies and the deposition of antibody-containing immune complexes in blood vessels throughout the body is the main pathogenic mechanism of SLE leading to heterogeneous clinical manifestations and target tissue damage. The complexity of etiology and pathogenesis in SLE, enclosing genetic and environmental factors, apparently is one of the greatest challenges for both researchers and clinicians. Strong indications for a genetic background in SLE come from studies in families as well as in monozygotic and dizygotic twins, discovering several SLE-associated loci and genes (e.g. IRF5, PTPN22, CTLA4, STAT4 and BANK1). As SLE has a complex genetic background, none of these genes is likely to be entirely responsible for triggering autoimmune response in SLE even if they disclosure a potentially novel molecular mechanisms in the pathogenesis' disease. The clinical manifestations and disease severity varies greatly among patients, thus several studies try to associate clinical heterogeneity and prognosis with specific genetic polymorphisms in SLE associated genes. The continue effort to describe new predisposing or modulating genes in SLE is justified by the limited knowledge about the pathogenesis, assorted clinical manifestation and the possible prevention strategies. In this review we describe newly discovered, as well as the most studied genes associated to SLE susceptibility, and relate them to clinical manifestations of the disease.
Export Options
About this article
Cite this article as:
Azevedo Silva J. De, Addobbati C., Sandrin-Garcia P. and Crovella S., Systemic Lupus Erythematosus: Old and New Susceptibility Genes versus Clinical Manifestations, Current Genomics 2014; 15 (1) . https://dx.doi.org/10.2174/138920291501140306113715
DOI https://dx.doi.org/10.2174/138920291501140306113715 |
Print ISSN 1389-2029 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5488 |
Call for Papers in Thematic Issues
Advanced AI Techniques in Big Genomic Data Analysis
The thematic issue on "Advanced AI Techniques in Big Genomic Data Analysis" aims to explore the cutting-edge methodologies and applications of artificial intelligence (AI) in the realm of genomic research, where vast amounts of data pose both challenges and opportunities. This issue will cover a broad spectrum of AI-driven strategies, ...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
Deep learning in Single Cell Analysis
The field of biology is undergoing a revolution in our ability to study individual cells at the molecular level, and to integrate data from multiple sources and modalities. This has been made possible by advances in technologies for single-cell sequencing, multi-omics profiling, spatial transcriptomics, and high-throughput imaging, as well as ...read more
Genomic Insights into Oncology: Harnessing Machine Learning for Breakthroughs in Cancer Genomics.
This special issue aims to explore the cutting-edge intersection of genomics and oncology, with a strong emphasis on original data and experimental validation. While maintaining the focus on how machine learning and advanced data analysis techniques are revolutionizing our understanding and treatment of cancer, this issue will prioritize contributions that ...read more
Related Journals
![Wayfinder Image](/images/wayfinder.jpg)
- 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
-
An Update on Autoinflammatory Diseases
Current Medicinal Chemistry Pharmacological Therapy of Pericardial Diseases
Current Pharmaceutical Design Immune Therapy for Infectious Diseases at the Dawn of the 21st Century: the Past, Present and Future Role of Antibody Therapy, Therapeutic Vaccination and Biological Response Modifiers
Current Pharmaceutical Design Microbial Agent – Fungus
Current Rheumatology Reviews Epidemiological Review of Gonococcal Infection
Current Women`s Health Reviews Late Sodium Current Inhibition: The Most Promising Antiarrhythmic Principle in the Near Future?
Current Medicinal Chemistry Myopericarditis, as the First Sign of Rheumatoid Arthritis Relapse, Evaluated by Cardiac Magnetic Resonance
Inflammation & Allergy - Drug Targets (Discontinued) Interatrial Block in the Modern Era
Current Cardiology Reviews Exercise-Induced Cardiac Troponin Release: Real-Life Clinical Confusion
Current Medicinal Chemistry Radiologic Findings of IgG4-Related Disease
Current Immunology Reviews (Discontinued) Coronary Microcirculation in Heart Failure with Preserved Systolic Function
Current Pharmaceutical Design Empirical Antimicrobial Therapy and QTc Interval Prolongation in Emergency Medicine
Current Drug Safety Systemic Lupus Erythematosus: Correlation Between Immunodysregulation and Clinical Manifestations
Current Rheumatology Reviews Clinical Characteristics and Treatment of Cardiomyopathies in Children
Current Cardiology Reviews Chest Pain in Children
Current Pediatric Reviews Cancer Treatment-Induced Cardiotoxicity: a Cardiac Stem Cell Disease?
Cardiovascular & Hematological Agents in Medicinal Chemistry Colchicine: An Ancient Drug with Multiple Benefits
Current Pharmaceutical Design Infrequent Infections in COPD
Current Respiratory Medicine Reviews Use of Medication in Coronary Imaging by CT
Current Medical Imaging Deep Inspiration Breath-hold (DIBH) Technique to Reduce Cardiac Radiation Dose in the Management of Breast Cancer
Current Cancer Therapy Reviews