ArticleScientific reports2017
Genotypic variability based association identifies novel non-additive loci DHCR7 and IRF4 in sero-negative rheumatoid arthritis.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Multi-ancestry genome-wide association analyses identify novel genetic mechanisms in rheumatoid arthritis.Nature genetics · 2022Pooled it
- Mean and variance heterogeneity loci impact kernel compositional traits in maize.The plant genome · 2025Article
- Detecting genetic effects on phenotype variability to capture gene-by-environment interactions: a systematic method comparison.G3 (Bethesda, Md.) · 2024Review
- Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis.Annals of the rheumatic diseases · 2022Article
- Genetics of rheumatoid arthritis.Seminars in immunopathology · 2022Review
- The Genetic, Environmental, and Immunopathological Complexity of Autoantibody-Negative Rheumatoid Arthritis.International journal of molecular sciences · 2021Review
- Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.Cellular & molecular immunology · 2021Review
- Variance heterogeneity genome-wide mapping for cadmium in bread wheat reveals novel genomic loci and epistatic interactions.The plant genome · 2020Article
- Implications of juvenile idiopathic arthritis genetic risk variants for disease pathogenesis and classification.Current opinion in rheumatology · 2019Review
- 'RA and the microbiome: do host genetic factors provide the link?Journal of autoimmunity · 2019Review
- vqtl: An R Package for Mean-Variance QTL Mapping.G3 (Bethesda, Md.) · 2018Article
- Genotypic variability-based genome-wide association study identifies non-additive loci HLA-C and IL12B for psoriasis.Journal of human genetics · 2018Article
- Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
Abstract
Sero-negative rheumatoid arthritis (RA) is a highly heterogeneous disorder with only a few additive loci identified to date. We report a genotypic variability-based genome-wide association study (vGWAS) of six cohorts of sero-negative RA recruited in Europe and the US that were genotyped with the Immunochip. A two-stage approach was used: (1) a mixed model to partition dichotomous phenotypes into an additive component and non-additive residuals on the liability scale and (2) the Levene's test to assess equality of the residual variances across genotype groups. The vGWAS identified rs2852853 (P = 1.3e-08, DHCR7) and rs62389423 (P = 1.8e-05, near IRF4) in addition to two previously identified loci (HLA-DQB1 and ANKRD55), which were all statistically validated using cross validation. DHCR7 encodes an enzyme important in cutaneous synthesis of vitamin D and DHCR7 mutations are believed to be important for early humans to adapt to Northern Europe where residents have reduced ultraviolet-B exposure and tend to have light skin color. IRF4 is a key locus responsible for skin color, with a vitamin D receptor-binding interval. These vGWAS results together suggest that vitamin D deficiency is potentially causal of sero-negative RA and provide new insights into the pathogenesis of the disorder.
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