Explanipedia

The PTPN22 R620W polymorphism is associated with inclusion body myositis: data from the UKMyoNet study Open

Yuhui Li, Gang Chen, Neil McHugh, Sarah Tansley, James B Lilleker , et al. · 2025

HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies Open

Gang Chen, Catherine Zhu, Hector Chinoy, Christopher I. Amos, Andrew P. Morris , et al. · 2025

This study identified significant nonadditive effects within the HLA region of IIM. A genetic risk model including nonadditive effects could provide more accurate individual risk estimates. These findings highlight a complex role of HLA he…

The incidence of anti-HMGCR immune-mediated necrotizing myopathy: an Australian and UK retrospective multi-site cohort study Open

Thomas Khoo, Elina Tan, Vidya Limaye, Harsha Gunawardena, Ross Sadler , et al. · 2025

Objectives Immune-mediated necrotizing myopathy (IMNM) with autoantibodies targeting 3-hydroxy-3-methylglutaryl-CoA reductase (anti-HMGCR) is considered a rare complication of statin therapy. We calculate the incidence of anti-HMGCR IMNM a…

OA29 HLA loci heterozygosity modulates genetic risk in idiopathic inflammatory myopathies Open

Gang Chen, Catherine Zhu, Hector Chinoy, Christopher I. Amos, Andrew A.M. Morris , et al. · 2025

Background/Aims The idiopathic inflammatory myopathies (IIMs) are a group of rare autoimmune disorders involving muscle tissue as well as skin, lung, and joints. Genetic association studies have highlighted the role of human leukocyte anti…

Anti-Sp4 and anti-CCAR1 autoantibodies in UK vs US patients with adult and juvenile-onset anti-TIF1γ-positive myositis Open

Fionnuala K McMorrow, Lucy R. Wedderburn, Hector Chinoy, Alexander Oldroyd, Janine A. Lamb , et al. · 2024

Objectives Anti-transcriptional intermediary factor 1γ (TIF1γ) autoantibodies are associated with malignancy in adult-onset idiopathic inflammatory myopathy (IIM) and this risk is attenuated if patients are also positive for anti-specifici…

Panel of serum biomarkers for differential diagnosis of idiopathic interstitial lung disease and interstitial lung disease-secondary to systemic autoimmune rheumatic disease Open

Miriana d’Alessandro, Paolo Cameli, Caroline Cotton, Janine A. Lamb, Laura Bergantini , et al. · 2024

Background Interstitial lung disease (ILD) may complicate the course of systemic autoimmune rheumatic disease (SARD) and diagnostic biomarkers are needed. Krebs von den Lungen-6 (KL-6), ferritin (FER) and interleukin 6 (IL-6) have been inv…

Discovery of new myositis genetic associations through leveraging other immune-mediated diseases Open

Guillermo Reales, Christopher I. Amos, Olivier Benvéniste, Hector Chinoy, Jan De Bleecker , et al. · 2024

Identification of connective tissue disease autoantibodies and a novel autoantibody anti-annexin A11 in patients with “idiopathic” interstitial lung disease Open

Sarah Tansley, Fionnuala McMorrow, Caroline Cotton, Huzaifa Adamali, Shaney Barratt , et al. · 2024

Specific guidance on autoantibody testing and interpretation in patients with ILD could improve diagnostic accuracy. Further work is required to determine the clinical significance of anti-annexin A11.

Correction to: Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry Open

Ryan Malcolm Hum, James B Lilleker, Janine A. Lamb, Alexander Oldroyd, Guochun Wang , et al. · 2024

Reply to: Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups Open

Thomas Khoo, James B Lilleker, Bernard Yu‐Hor Thong, Valérie Leclair, Janine A. Lamb , et al. · 2024

The clinical relevance of WDFY4 in autoimmune diseases in diverse ancestral populations Open

Xia Lyu, Janine A. Lamb, Hector Chinoy · 2024

WD repeat- and FYVE domain-containing protein 4 (WDFY4), coded by a gene on 10q11.23, is a member of the BEACH (Beige and Chediak-Higashi) domain-containing family. Genome-wide association studies identified WDFY4 variants as a risk factor…

Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies Open

Valérie Leclair, Angeles S. Galindo‐Feria, Simon Rothwell, Olga Kryštůfková, Sepehr Sarrafzadeh Zargar , et al. · 2023

Comparison of clinical features between patients with anti-synthetase syndrome and dermatomyositis: results from the MYONET registry Open

Ryan Malcolm Hum, James B Lilleker, Janine A. Lamb, Alexander Oldroyd, Guochun Wang , et al. · 2023

Objectives To compare clinical characteristics, including the frequency of cutaneous, extramuscular manifestations and malignancy, between adults with anti-synthetase syndrome (ASyS) and DM. Methods Using data regarding adults from the MYO…

POS1221 CLINICAL FEATURES OF PATIENTS WITH ANTI-SYNTHETASE SYNDROME AND DERMATOMYOSITIS-ASSOCIATED SKIN MANIFESTATIONS: RESULTS FROM THE MYONET REGISTRY Open

Ryan Malcolm Hum, James B Lilleker, Janine A. Lamb, Alexander Oldroyd, W E Ollier , et al. · 2023

Background Up to 28% of patients with anti-synthetase syndrome (AsyS) have dermatomyositis (DM)-type rashes. However, it is not clear whether ASyS patients with DM-type rashes should be treated similarly to patients with DM or classified a…

Distinct HLA Associations with Autoantibody-Defined Subgroups in Idiopathic Inflammatory Myopathies Open

Valérie Leclair, Angeles S. Galindo‐Feria, Simon Rothwell, Olga Kryštůfková, Sepehr Sarrafzadeh Zargar , et al. · 2023

Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome‐Wide Imputation Open

Simon Rothwell, Christopher I. Amos, Frederick W. Miller, Lisa G. Rider, Ingrid E. Lundberg , et al. · 2022

Objective The idiopathic inflammatory myopathies (IIMs) are heterogeneous diseases thought to be initiated by immune activation in genetically predisposed individuals. We imputed variants from the ImmunoChip array using a large reference p…

Low copy numbers of complement C4 and C4A deficiency are risk factors for myositis, its subgroups and autoantibodies Open

Danlei Zhou, Emily King, Simon Rothwell, Olga Kryštůfková, Antonella Notarnicola , et al. · 2022

The Genetics of Autoimmune Myositis Open

Janine A. Lamb · 2022

The idiopathic inflammatory myopathies (IIM) are rare, heterogeneous systemic autoimmune disorders, characterized by inflammation of skeletal muscle and multi-organ involvement. Studies to identify genetic risk factors and dysregulated gen…

47XXY and 47XXX in Scleroderma and Myositis Open

R. Hal Scofield, Valerie M. Lewis, Joshua Cavitt, Biji T. Kurien, Shervin Assassi , et al. · 2022

Objective We undertook this study to examine the X chromosome complement in participants with systemic sclerosis (SSc) as well as idiopathic inflammatory myopathies. Methods The participants met classification criteria for the diseases. Al…

Contribution of Rare Genetic Variation to Disease Susceptibility in a Large Scandinavian Myositis Cohort Open

Matteo Bianchi, Sergey V. Kozyrev, Antonella Notarnicola, Lina Hultin Rosenberg, Åsa Karlsson , et al. · 2021

Objective Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of complex autoimmune conditions characterized by inflammation in skeletal muscle and extramuscular compartments, and interferon (IFN) system activation. We unde…

POS0288 A KEY TIF1γ EPITOPE MAY FACILITATE THE IDENTIFICATION OF PATIENTS AT HIGHEST RISK OF CANCER ASSOCIATED MYOSITIS Open

Victoria Riddell, Fionnuala K McMorrow, Alexander Oldroyd, Claire T. Deakin, Janine A. Lamb , et al. · 2021

Analysis of human total antibody repertoires in TIF1γ autoantibody positive dermatomyositis Open

Spyridon Megremis, Thomas D. J. Walker, Xiaotong He, James D.B. O’Sullivan, William Ollier , et al. · 2021

MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies Open

Joanna E. Parkes, Anastasia Thoma, Adam P. Lightfoot, Philip J. Day, Hector Chinoy , et al. · 2020

Antibodies against immunogenic epitopes with high sequence identity to SARS-CoV-2 in patients with autoimmune dermatomyositis Open

Spyridon Megremis, Thomas D. J. Walker, Xiaotong He, William Ollier, Hector Chinoy , et al. · 2020

O33 Earlier cancer diagnosis after myositis onset is associated with improved long term survival: results from UK, French and Czech cohorts Open

Alexander Oldroyd, Paul New, Janine A. Lamb, William Ollier, Robert G. Cooper , et al. · 2020

Background The idiopathic inflammatory myopathies (IIMs) are associated with cancer. Cancer screening is advocated in new IIM cases; however no study has investigated if this confers improved long-term survival. This study aimed to investi…

Microbial and autoantibody immunogenic repertoires in TIF1γ autoantibody positive dermatomyositis Open

Spyridon Megremis, Thomas D. J. Walker, Xiaotong He, James D.B. O’Sullivan, William Ollier , et al. · 2020

Summary We investigate the accumulated microbial and autoantigen antibody repertoire in adult-onset dermatomyositis patients sero-positive for TIF1γ (TRIM33) autoantibodies. We use an untargeted high-throughput approach which combines immu…

Additional file 5 of MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies Open

Joanna E. Parkes, Anastasia Thoma, Adam P. Lightfoot, Philip J. Day, Hector Chinoy , et al. · 2020

Additional file 5 Canonical Pathways with an enrichment of significantly differentially expressed genes in idiopathic inflammatory myopathy patients PM Polymyositis, DM Dermatomyositis, IBM Inclusion body myositis, Anti-Jo1 Subset of PM an…

Additional file 2 of MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies Open

Joanna E. Parkes, Anastasia Thoma, Adam P. Lightfoot, Philip J. Day, Hector Chinoy , et al. · 2020

Additional file 2 Significant RNA sequencing differential expression in polymyositis, dermatomyositis and inclusion body myositis patients versus controls PM Polymyositis, DM Dermatomyositis, IBM Inclusion body myositis, Anti-Jo1 Subset of…

Additional file 4 of MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies Open

Joanna E. Parkes, Anastasia Thoma, Adam P. Lightfoot, Philip J. Day, Hector Chinoy , et al. · 2020

Additional file 4 GOseq analysis of differentially expressed genes in idiopathic inflammatory myopathy patients versus controls PM Polymyositis, DM Dermatomyositis, IBM Inclusion body myositis, Anti-Jo1 Subset of PM and DM with anti-Jo1 au…

Additional file 3 of MicroRNA and mRNA profiling in the idiopathic inflammatory myopathies Open

Joanna E. Parkes, Anastasia Thoma, Adam P. Lightfoot, Philip J. Day, Hector Chinoy , et al. · 2020

Additional file 3 Significant microRNA sequencing differential expression in polymyositis, dermatomyositis and inclusion body myositis patients versus controls PM Polymyositis, DM Dermatomyositis, IBM Inclusion body myositis, Anti-Jo1 Subs…

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