ArticleJournal of immunology (Baltimore, Md. : 1950)2011
Autoimmune disease risk variant of IFIH1 is associated with increased sensitivity to IFN-α and serologic autoimmunity in lupus patients.
Article in Journal of immunology (Baltimore, Md. : 1950), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 93 papers, 3 of them syntheses that pooled it.
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Who cites it
93 citing papers in PubMed, 3 syntheses or guidelines pooled it, 155 citations in OpenAlex.
- Investigating the shared genetic architecture between selective immunoglobulin A deficiency and autoimmune diseases.Human genetics · 2026Pooled it
- Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.Arthritis research & therapy · 2020Pooled it
- Novel linkage disequilibrium clustering algorithm identifies new lupus genes on meta-analysis of GWAS datasets.Immunogenetics · 2017Pooled it
- Intrinsic OASL expression governs heterogeneity in interferon induction during influenza A virus infection.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Gene variants of interferon induced with helicase C domain 1 in Japanese patients with Dermatomyositis-associated rapidly progressive interstitial lung disease: a genetic association study using whole-exome and Sanger sequencing.Respiratory research · 2025Article
- Clinical features and survival analysis of 40 cases of anti-MDA5 antibody-positive dermatomyositis complicated with interstitial lung disease.Arthritis research & therapy · 2025Article
- Evaluation of the Efficacy and Safety of Anifrolumab in Moderate-to-Severe Systemic Lupus Erythematosus.Cureus · 2024Review
- Type I Interferons in Systemic Autoimmune Rheumatic Diseases: Pathogenesis, Clinical Features and Treatment Options.Mediterranean journal of rheumatology · 2024Review
- RNA-Seq of an LPS-Induced Inflammation Model Reveals Transcriptional Profile Patterns of Inflammatory Processes.Life (Basel, Switzerland) · 2024Article
- The Sixth Sense: Self-nucleic acid sensing in the brain.Advances in immunology · 2024Review
- Enhanced immune complex formation in the lungs of patients with dermatomyositis.Respiratory research · 2023Article
- MDA5-dependent responses contribute to autoimmune diabetes progression and hindrance.JCI insight · 2023Article
- Mitochondria in innate immunity signaling and its therapeutic implications in autoimmune diseases.Frontiers in immunology · 2023Review
- Friend or foe: RIG- I like receptors and diseases.Autoimmunity reviews · 2022Review
- Emerging concepts of type I interferons in SLE pathogenesis and therapy.Nature reviews. Rheumatology · 2022Review
- Interferon pathway lupus risk alleles modulate risk of death from acute COVID-19.Translational research : the journal of laboratory and clinical medicine · 2022Article
- Application and prospect of targeting innate immune sensors in the treatment of autoimmune diseases.Cell & bioscience · 2022Review
- Cellular origins of dsRNA, their recognition and consequences.Nature reviews. Molecular cell biology · 2022Review
- Type I Interferons in Autoimmunity.The Journal of investigative dermatology · 2022Review
- Article
33 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
Increased IFN-α signaling is a heritable risk factor for systemic lupus erythematosus (SLE). IFN induced with helicase C domain 1 (IFIH1) is a cytoplasmic dsRNA sensor that activates IFN-α pathway signaling. We studied the impact of the autoimmune-disease-associated IFIH1 rs1990760 (A946T) single nucleotide polymorphism upon IFN-α signaling in SLE patients in vivo. We studied 563 SLE patients (278 African-American, 179 European-American, and 106 Hispanic-American). Logistic regression models were used to detect genetic associations with autoantibody traits, and multiple linear regression was used to analyze IFN-α-induced gene expression in PBMCs in the context of serum IFN-α in the same blood sample. We found that the rs1990760 T allele was associated with anti-dsDNA Abs across all of the studied ancestral backgrounds (meta-analysis odds ratio = 1.34, p = 0.026). This allele also was associated with lower serum IFN-α levels in subjects who had anti-dsDNA Abs (p = 0.0026). When we studied simultaneous serum and PBMC samples from SLE patients, we found that the IFIH1 rs1990760 T allele was associated with increased IFN-induced gene expression in PBMCs in response to a given amount of serum IFN-α in anti-dsDNA-positive patients. This effect was independent of the STAT4 genotype, which modulates sensitivity to IFN-α in a similar way. Thus, the IFIH1 rs1990760 T allele was associated with dsDNA Abs, and in patients with anti-dsDNA Abs this risk allele increased sensitivity to IFN-α signaling. These studies suggest a role for the IFIH1 risk allele in SLE in vivo.
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Registered trials
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