An allele-specific functional SNP associated with two systemic autoimmune diseases modulates IRF5 expression by long-range chromatin loop formation

Both Systemic Lupus Erythematosus (SLE) and Systemic Sclerosis (SSc) are autoimmune diseases sharing similar genetic backgrounds. Genome-wide association studies (GWASs) have constantly disclosed numerous genetic variants conferring to both disease risks at 7q32.1, but the functional mechanisms underlying them are still largely unknown. Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional SNP (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene ( ∼118kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation increasing risk of both SLE and SSc.
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Original Article Source Type: research

Related Links:

Publication date: Available online 11 September 2019Source: Best Practice &Research Clinical Endocrinology &MetabolismAuthor(s): Vânia Vieira Borba, Gisele Zandman-Goddard, Yehuda ShoenfeldAbstractNowadays, more than 80 autoimmune disorders are recognized, in which an aberrant immune response against different organs and tissues plays a crucial role. Hormonal homeostasis has great influence in achieving competent and healthy immune system function. Prolactin has a bioactive function acting as a hormone and a cytokine. It influences the immune system modulation, mainly inhibiting the negative selection of auto...
Source: Best Practice and Research Clinical Endocrinology and Metabolism - Category: Endocrinology Source Type: research
Conclusions: Rituximab is both safe and effective for the treatment of acquired angioedema with C1-inhibitor deficiency, ANCA-associated vasculitis, autoimmune hemolytic anemia, Behçet’s disease, bullous pemphigoid, Castleman’s disease, cryoglobulinemia, Goodpasture’s disease, IgG4-related disease, immune thrombocytopenia, juvenile idiopathic arthritis, membraneous nephropathy, relapsing-remitting multiple sclerosis, myasthenia gravis, nephrotic syndrome, neuromyelitis optica, pemphigus, rheumatoid arthritis, spondyloarthropathy, and systemic sclerosis. Conversely, rituximab failed to show an effec...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
This article is protected by copyright. All rights reserved.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Reply to Letter to the Editor Source Type: research
This article is protected by copyright. All rights reserved. PMID: 31424086 [PubMed - as supplied by publisher]
Source: European Journal of Immunology - Category: Allergy & Immunology Authors: Tags: Eur J Immunol Source Type: research
The anti-Ro52 antibody is found in a number of autoimmune diseases, including Sj ögren’s syndrome (SS), systemic lupus erythematosus, systemic sclerosis and dermatomyositis (DM)/polymyositis (PM). It is most frequently found in SS (37.4-66.7%) and second-most frequently in DM/PM (26.3-31.2%) [1]. It is also one of the most common autoantibodies in inflammatory myopathies and is classified as a myositis-associated antibody (MAA), which is frequently found in PM/DM but not specific for this diagnosis [2,3].
Source: Journal of Dermatological Science - Category: Dermatology Authors: Tags: Letter to the Editor Source Type: research
ConclusionAnti-DFS70 antibody was more prevalent in the subsets of SARD than BD. This result may be related to the demographic formation of study groups and individual immunological status. More comprehensive studies are needed to investigate the importance of the anti-DFS70 antibody for SARD.Key Points• This study draws attention to the importance of anti-DFS70 antibodies in the diagnostic algorithm in systemic autoimmune rheumatic diseases.• This study emphasizes the further investigation of anti-DFS70 antibodies in undifferentiated connective tissue diseases.• This study emphasizes the need to verify the ...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Systemic lupus erythematosus (SLE), systemic sclerosis (SSc) and small vessel vasculitis are three autoimmune diseases frequently manifested in the skin. They share common pathogenic features, including production of autoantibodies, loss of tolerance to self-antigens, tissue necrosis and fibrosis, vasculopathy and activation of the coagulation system. Platelets occupy a central part within the coagulation cascade and are well recognized for their hemostatic role. However, recent cumulative evidence implicates their additional and multifaceted immunoregulatory functions. Platelets express immune receptors and they store gro...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
AbstractSelective immunoglobulin A deficiency (SIgAD) is the most common primary immunodeficiency, defined as an isolated deficiency of IgA (less than 0.07  g/L). Although the majority of people born with IgA deficiency lead normal lives without significant pathology, there is nonetheless a significant association of IgA deficiency with mucosal infection, increased risks of atopic disease, and a higher prevalence of autoimmune disease. To explain thes e phenomena, we have performed an extensive literature review to define the geoepidemiology of IgA deficiency and particularly the relative risks for developing systemic...
Source: Clinical Reviews in Allergy and Immunology - Category: Allergy & Immunology Source Type: research
Authors: Vanni VS, De Lorenzo R, Privitera L, Canti V, Viganò P, Rovere-Querini P Abstract Introduction: Systemic Autoimmune Diseases (SADs) include systemic lupus erythematosus, antiphospholipid antibody syndrome, rheumatoid arthritis, systemic sclerosis, Sjogren's syndrome, mixed connective tissue disease, idiopathic inflammatory myopathies and vasculitis. SADs often occur in women of childbearing age and can affect fertility. Both infertility treatments and fertility preservation techniques are thus often indicated. Areas covered: The literature regarding the safety of fertility-related drugs for both fer...
Source: Expert Opinion on Drug Safety - Category: Drugs & Pharmacology Tags: Expert Opin Drug Saf Source Type: research
Semin Respir Crit Care Med 2019; 40: 227-234 DOI: 10.1055/s-0039-1685537Systemic lupus erythematosus (SLE) is an autoimmune rheumatic disease characterized by the production of pathogenic autoantibodies and immune complexes and is responsible for significant morbidity and mortality through a wide range of clinical manifestations which can affect almost any organ. Pulmonary involvement is prevalent and seen in 50 to 70% of SLE patients and may even be the presenting feature in 4 to 5% of patients. By 10 years postdiagnosis, 12% will have accumulated an element of permanent lung damage. Pulmonary complications are broad and ...
Source: Seminars in Respiratory and Critical Care Medicine - Category: Respiratory Medicine Authors: Tags: Review Article Source Type: research
More News: Autoimmune Disease | Dermatology | Genetics | Lupus | Scleroderma | Skin | Study