ArticleArthritis research & therapy2014
An Immunochip-based interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3.
Article in Arthritis research & therapy, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 5 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 5 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Pulmonary arterial hypertension susceptibility and mortality among patients with systemic sclerosis with the DNASE1L3 rs35677470 (Arg206Cys) variant.Annals of the rheumatic diseases · 2026Pooled it
- Sex-specific autosomal susceptibility loci in systemic sclerosis: a genome-wide association study.The Lancet. Rheumatology · 2026Pooled it
- Anti-RNA polymerase III antibodies in systemic sclerosis: prevalence and clinical associations from a systematic review and meta-analysis.Rheumatology (Oxford, England) · 2025Pooled it
- GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.Nature communications · 2019Pooled it
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- DNASE1L3 surveils mitochondrial DNA on the surface of distinct mammalian cells.bioRxiv : the preprint server for biology · 2025Article
- Increased serum ATG5 as a marker of autophagy in psoriasis vulgaris patients: a cross-sectional study.Archives of dermatological research · 2024Article
- A dual-acting DNASE1/DNASE1L3 biologic prevents autoimmunity and death in genetic and induced lupus models.JCI insight · 2024Article
- Neurological, cardiac, musculoskeletal, and renal manifestations of scleroderma along with insights into its genetics, pathophysiology, diagnostic, and therapeutic updates.Health science reports · 2024Article
- Neutrophil extracellular traps and DNases orchestrate formation of peritoneal adhesions.iScience · 2023Article
- Reduced digestion of circulating genomic DNA in systemic sclerosis patients with the DNASE1L3 R206C variant.Rheumatology (Oxford, England) · 2023Article
- The Role of Autophagy and Apoptosis in Affected Skin and Lungs in Patients with Systemic Sclerosis.International journal of molecular sciences · 2023Review
- A Summary on the Genetics of Systemic Lupus Erythematosus, Rheumatoid Arthritis, Systemic Sclerosis, and Sjögren's Syndrome.Clinical reviews in allergy & immunology · 2023Review
- Pan‑cancer analysis of the deoxyribonuclease gene family.Molecular and clinical oncology · 2023Article
- Regulatory strategies limiting endosomal Toll-like receptor activation in B cells.Immunological reviews · 2022Review
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Contribution of HLA and KIR Alleles to Systemic Sclerosis Susceptibility and Immunological and Clinical Disease Subtypes.Frontiers in genetics · 2022Article
- The Role of Nucleases and Nucleic Acid Editing Enzymes in the Regulation of Self-Nucleic Acid Sensing.Frontiers in immunology · 2021Review
- DNASE1L3 as a Novel Diagnostic and Prognostic Biomarker for Lung Adenocarcinoma Based on Data Mining.Frontiers in genetics · 2021Article
- Association of the DNASE1L3 rs35677470 polymorphism with systemic lupus erythematosus, rheumatoid arthritis and systemic sclerosis: Structural biological insights.Molecular medicine reports · 2020Article
Corrections and comments
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Authors and funding
16 authors at 8 institutions in 1 country.
Funding
Abstract
introductionThe aim of the study was to interrogate the genetic architecture and autoimmune pleiotropy of scleroderma susceptibility in the Australian population.
methodsWe genotyped individuals from a well-characterized cohort of Australian scleroderma patients with the Immunochip, a custom array enriched for single nucleotide polymorphisms (SNPs) at immune loci. Controls were taken from the 1958 British Birth Cohort. After data cleaning and adjusting for population stratification the final dataset consisted of 486 cases, 4,458 controls and 146,525 SNPs. Association analyses were conducted using logistic regression in PLINK. A replication study was performed using 833 cases and 1,938 controls.
resultsA total of eight loci with suggestive association (P <10-4.5) were identified, of which five showed significant association in the replication cohort (HLA-DRB1, DNASE1L3, STAT4, TNP03-IRF5 and VCAM1). The most notable findings were at the DNASE1L3 locus, previously associated with systemic lupus erythematosus, and VCAM1, a locus not previously associated with human disease. This study identified a likely functional variant influencing scleroderma susceptibility at the DNASE1L3 locus; a missense polymorphism rs35677470 in DNASE1L3, with an odds ratio of 2.35 (P = 2.3 × 10(-10)) in anti-centromere antibody (ACA) positive cases.
conclusionsThis pilot study has confirmed previously reported scleroderma associations, revealed further genetic overlap between scleroderma and systemic lupus erythematosus, and identified a putative novel scleroderma susceptibility locus.
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