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
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
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
-
Excess Cardiovascular Risk in Inflammatory Rheumatic Diseases: Pathophysiology and Targeted Therapy
Current Pharmaceutical Design The HLA Region and Autoimmune Disease: Associations and Mechanisms of Action
Current Genomics Malignancy and Radiation-Induced Cardiotoxicity
Cardiovascular & Hematological Disorders-Drug Targets Antimicrobial Susceptibilities and Treatment Options for Pediatric Mycoplasma pneumoniae Infections - Does Macrolide Resistance Matter?
Current Pediatric Reviews Cardiovascular Disease in the Systemic Vasculitides
Current Vascular Pharmacology Kingella kingae: A Pediatric Pathogen of Increasing Importance
Current Pediatric Reviews Kv1.5 Inhibitors for Treatment of Atrial Fibrillation: A Tradeoff between Selectivity and Non-selectivity
Current Topics in Medicinal Chemistry Topoisomerases and Anthracyclines: Recent Advances and Perspectives in Anticancer Therapy and Prevention of Cardiotoxicity
Current Medicinal Chemistry The Role of Colchicine in Pericardial Syndromes
Current Pharmaceutical Design Update on the Adverse Effects of Clozapine: Focus on Myocarditis
Current Drug Safety Statins as Anti-Inflammatory Agents in Atherogenesis: Molecular Mechanisms and Lessons from the Recent Clinical Trials
Current Pharmaceutical Design Atrial Fibrillation Following Cardiac Surgery: Established and Emerging Strategies of Prevention
Recent Patents on Cardiovascular Drug Discovery Adverse Reactions Induced by Minocycline: A Review of Literature
Current Drug Safety The Management of Thymoma - A Review of the Status Quo with Practical Treatment Recommendations
Current Respiratory Medicine Reviews Novel PET Tracers in the Management of Cardiac Sarcoidosis
Current Radiopharmaceuticals Tuberculous Pericarditis
Current Cardiology Reviews Enterovirus D-68 Molecular Virology, Epidemiology, and Treatment: an Update and Way Forward
Infectious Disorders - Drug Targets Virus-Associated Vasculitides
Current Immunology Reviews (Discontinued) Clinical Utility of Cardiac Magnetic Resonance Imaging in Pericardial Diseases
Current Cardiology Reviews Signs and Related Mechanisms of Ethanol Hepatotoxicity
Current Drug Abuse Reviews