ArticleHuman molecular genetics2009
IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells.
Article in Human molecular genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 2 of them syntheses that pooled it.
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Who cites it
83 citing papers in PubMed, 2 syntheses or guidelines pooled it, 163 citations in OpenAlex.
- Association of the rs1990760, rs3747517, and rs10930046 polymorphisms in theFrontiers in immunology · 2023Pooled it
- Pooled it
- Molecular basis of autoimmune disease protection by MDA5 variants.Cell reports · 2025Article
- MDA5 variants trade antiviral activity for protection from autoimmune disease.BMC medical genomics · 2025Article
- The Type 1 Diabetes-Associated Single Nucleotide Polymorphism rs1990760 in IFIH1 Is Associated with Increased Basal Type I IFNs and IFN-stimulated Gene Expression.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Genetic relations between type 1 diabetes, coronary artery disease and leukocyte counts.Diabetologia · 2024Article
- Disrupted RNA editing in beta cells mimics early-stage type 1 diabetes.Cell metabolism · 2024Article
- Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.Frontiers in immunology · 2024Article
- TheInternational journal of molecular sciences · 2023Article
- Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families.Scientific reports · 2023Article
- Association of IFIH1 and DDX58 genes polymorphism with susceptibility to COVID-19.Medical microbiology and immunology · 2023Article
- Age-dependent effect of the IFIH1/MDA5 gene variants on the risk of critical COVID-19.Immunogenetics · 2023Article
- Article
- RIG-I-like Receptor Regulation of Immune Cell Function and Therapeutic Implications.Journal of immunology (Baltimore, Md. : 1950) · 2022Review
- Application and prospect of targeting innate immune sensors in the treatment of autoimmune diseases.Cell & bioscience · 2022Review
- Functional Impact of Risk Gene Variants on the Autoimmune Responses in Type 1 Diabetes.Frontiers in immunology · 2022Review
- Regulation of RIG-I-like receptor-mediated signaling: interaction between host and viral factors.Cellular & molecular immunology · 2021Review
- Innate Viral Sensor MDA5 and Coxsackievirus Interplay in Type 1 Diabetes Development.Microorganisms · 2020Review
- Population History and Gene Divergence in Native Mexicans Inferred from 76 Human Exomes.Molecular biology and evolution · 2020Article
- Genetic Association Study of IL2RA, IFIH1, and CTLA-4 Polymorphisms With Autoimmune Thyroid Diseases and Type 1 Diabetes.Frontiers in pediatrics · 2020Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
22 authors at 5 institutions in 2 countries.
Funding
Abstract
Genome-wide association (GWA) studies revealed a number of single nucleotide polymorphisms (SNPs) significantly associated with type 1 diabetes (T1D). In an attempt to confirm some of these candidate associations, we genotyped 2046 Caucasian patients and 2417 normal controls from the United States for SNPs in five genomic regions. While no evidence was obtained for four genomic regions (rs2929366/NM_144715 on chromosome 3, rs9127/Q7Z4C4 on chromosome 5, rs1445898/CAPSL on chromosome 5 and rs2302188/NM_033543 on chromosome 19), we provide strong evidence for association between T1D and multiple SNPs in the IFIH1 linkage disequilibrium (LD) block on chromosome 2q. Among the 10 SNPs genotyped for the 2q region, four SNPs located within the IFIH1 gene or at the 5' region of IFIH1 showed significant association with T1D in the Georgia population [odds ratio (OR) = 1.7-1.9] with the best P-value found at SNP rs1990760 (P = 8 x 10(-8) and OR = 1.9). Several SNPs outside of the IFIH1 gene also showed significant but weaker associations. Furthermore, IFIH1 gene expression levels in peripheral blood mononuclear cells are significantly correlated with IFIH1 genotypes, and higher IFIH1 levels are found in individuals with the susceptible genotypes (P = 0.005). Thus, both genetic association and gene expression data suggest that IFIH1 is the most plausible candidate gene implicated in T1D in this LD block.
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Registered trials
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