Objective: The HLA 8.1 ancestral haplotype (HLA-B*08/DRB1*03/DQA1*05/DQB1*02) is associated with adult/juvenile idiopathic inflammatory myopathy (IIM), but confers a greater strength of association in patients possessing anti-Jo-1 or anti-PM-Scl antibodies. The HLA-DPB1 gene is centromeric to other HLA class II loci and separated by a recombination hotspot. We investigated whether HLA-DPB1 associations differ between anti-Jo-1 and anti-PM-Scl antibody-positive IIM cases.
Methods: Two hundred and thirty-three adult IIM patients (73% females, 49.4 +/- 13.6 years) with PM (n = 89), DM (n = 88) and myositis associated with another CTD (n = 55) and 85 juvenile DM patients (75% females, 6.2 +/- 3.6 years) were compared with 678 UK Caucasian controls. Patients/controls were genotyped for HLA-DPB1 and DRB1 alleles. Myositis-specific and associated antibodies were identified in cases using immunoprecipitation.
Results: HLA-DPB1*0101 was associated with IIM overall [22 vs 13% controls, corrected probability (P(corr)) = 2 x 10(-03); odds ratio (OR) 2.0; 95% CI 1.4, 2.9], PM (P(corr) = 7 x 10(-03); OR 2.5; 95% CI 1.5, 4.4) and anti-Jo-1 (P(corr) = 3 x 10(-5); OR 4.1; 95% CI 2.1, 7.8). No significant DPB1*0101 difference was present between anti-PM-Scl cases and controls. The HLA-DPB1*0101 association in IIM overall cases was dependent on the presence of DRB1*03. A number of HLA-DRB1*03/DPB1 haplotypes were identified, but only DRB1*03/DPB1*0101 was associated with anti-Jo-1 antibody-positive cases.
Conclusions: The HLA-DRB1*03/DPB1*0101 haplotype is a risk factor for anti-Jo-1 antibody-positive IIM. Thus, although DRB1*03 is strongly associated with possession of either anti-Jo-1 or anti-PM-Scl, differing antibody associations are observed at the HLA-DPB1 locus.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/rheumatology/kep248 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Antinuclear antibody (ANA) positivity pattern by line immunoassay in a hospital from eastern India: Update from a laboratory perspective.
J Family Med Prim Care
April 2024
Department of Biochemistry, AIIMS Patna, Patna, Bihar, India.
Context: The existence of more than one antibody in systemic autoimmune rheumatic diseases (SARDs) or connective tissue disease (CTD) along with features of more than one autoimmune disease (AD) in an individual is suggestive of overlap syndrome (OS). Line immunoassay (LIA) can target many autoantibodies in a single approach, thus making the identification of OS feasible.
Aims And Objectives: This study aimed to identify the pattern of distribution of antinuclear antibodies by LIA prevalent in a hospital population in eastern India and identify common forms of SARD in this belt based on laboratory findings.
Anasarca as the first presentation of anti-synthetase syndrome.
BMJ Case Rep
May 2024
Department of Rheumatology and Immunology, Singapore General Hospital, Singapore.
A woman in her 70s presented with anasarca and exertional dyspnoea. Investigation showed severe hypoalbuminaemia with no urinary or gastrointestinal protein losses. CT thorax reported lung consolidations, and transbronchial lung biopsy demonstrated organising pneumonia.
View Article and Find Full Text PDFSARS-CoV-2 infection and increasing autoimmune disorders among ICU-hospitalized COVID-19 patients.
Int J Rheum Dis
November 2023
Immunology Research Center, Inflammation and Inflammatory Diseases Division, Mashhad University of Medical Sciences, Mashhad, Iran.
Introduction: In acute conditions, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) causes multi-organ damage due to the induction of inappropriate immune responses, particularly lung tissue fibrosis. To evaluate the consequence of the deterioration of the immune system, autoimmune markers were assessed.
Methods: In a case-control study, 108 patients with coronavirus disease 2019 (COVID-19) were admitted to the intensive care unit (ICU), and 158 outpatients with mild clinical symptoms, with SARS-CoV-2 reverse transcription quantitative polymerase chain reaction (RT-qPCR) positive tests, were included for comparison.
Clinical Significance of Myositis-Specific and Myositis-Associated Antibody Profiles in Dermatomyositis.
Indian Dermatol Online J
December 2022
Department of Clinical Research, Aster Medcity, Kochi, Kerala, India.
Background: Myositis-specific autoantibodies (MSA) and myositis-associated autoantibodies (MAA) are clinically useful biomarkers that point to the diagnosis, clinical manifestations, and prognosis of dermatomyositis (DM).
Materials And Methods: To estimate the prevalence of MSA as well as MAA and analyze possible clinical correlations of these autoantibodies in patients diagnosed with DM, we conducted a cross-sectional study of 30 patients who were diagnosed with DM.
Results: MSA were positive in 19 patients (63%) in which Mi 2 was positive in 8 (27%) patients, and this was the most frequently found MSA.
Low copy numbers of complement and deficiency are risk factors for myositis, its subgroups and autoantibodies.
Ann Rheum Dis
February 2023
Center for Microbial Pathogenesis, Abigail Wexner Research Institute, Nationwide Children's Hospital, Columbus, Ohio, USA
Article Synopsis
- Idiopathic inflammatory myopathies (IIM) are autoimmune diseases causing muscle and skin inflammation, leading to symptoms like chronic weakness and fatigue, with complement-mediated destruction involved in their pathology.
- A study analyzed gene copy number variations in 1644 IIM patients and 3526 healthy controls, finding low GCNs and complement deficiencies significantly increased the risk of IIM.
- Results indicated that complement deficiency is particularly relevant in cases of dermatomyositis and polymyositis, while a specific gene was linked to a high risk of inclusion body myositis (IBM).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!