ArticleProceedings of the National Academy of Sciences of the United States of America2017
ERAP1 association with ankylosing spondylitis is attributable to common genotypes rather than rare haplotype combinations.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 38 citations in OpenAlex.
- A large meta-analysis identifies genes associated with anterior uveitis.Nature communications · 2023Pooled it
- Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.Human molecular genetics · 2018Pooled it
- The Genetic Background of Ankylosing Spondylitis Reveals a Distinct Overlap with Autoimmune Diseases: A Systematic Review.Journal of clinical medicine · 2025Review
- EULAR study group on 'MHC-I-opathy': identifying disease-overarching mechanisms across disciplines and borders.Annals of the rheumatic diseases · 2023Review
- Genetically predicted ankylosing spondylitis is causally associated with psoriasis.Frontiers in immunology · 2023Article
- FunctionalCells · 2022Article
- Allotypic variation in antigen processing controls antigenic peptide generation from SARS-CoV-2 S1 spike glycoprotein.The Journal of biological chemistry · 2021Article
- Conformational dynamics linked to domain closure and substrate binding explain the ERAP1 allosteric regulation mechanism.Nature communications · 2021Article
- Aberrant antigen processing and presentation: Key pathogenic factors leading to immune activation in Ankylosing spondylitis.Seminars in immunopathology · 2021Review
- Perspectives on the Genetic Associations of Ankylosing Spondylitis.Frontiers in immunology · 2021Review
- Spondyloarthritis and the Human Leukocyte Antigen (HLA)-BFrontiers in immunology · 2021Review
- MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions.Arthritis research & therapy · 2020Article
- Discovery of Selective Inhibitors of Endoplasmic Reticulum Aminopeptidase 1.Journal of medicinal chemistry · 2020Article
- HLA associations in inflammatory arthritis: emerging mechanisms and clinical implications.Nature reviews. Rheumatology · 2019Review
- Translating GWAS in rheumatic disease: approaches to establishing mechanism and function for genetic associations with ankylosing spondylitis.Briefings in functional genomics · 2018Review
- An allelic variant in the intergenic region between ERAP1 and ERAP2 correlates with an inverse expression of the two genes.Scientific reports · 2018Article
- Progress of genome-wide association studies of ankylosing spondylitis.Clinical & translational immunology · 2017Review
- The interplay between HLA-B27 and ERAP1/ERAP2 aminopeptidases: from anti-viral protection to spondyloarthritis.Clinical and experimental immunology · 2017Review
- Both rare and common ERAP1 allotypes have distinct functionality defined by polymorphic context and are important in AS association.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Reply to Reeves et al.: No evidence for rareProceedings of the National Academy of Sciences of the United States of America · 2017Article
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8 authors at 4 institutions in 2 countries.
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Abstract
We investigated the proposal that ankylosing spondylitis (AS) is associated with unusual ERAP1 genotypes. ERAP1 haplotypes were constructed for 213 AS cases and 46 rheumatoid arthritis controls using family data. Haplotypes were generated from five common ERAP1 single nucleotide polymorphisms (SNPs)-rs2287987 (M349V), rs30187 (K528R), rs10050860 (D575N), rs17482078 (R725Q), and rs27044 (Q730E). Haplotype frequencies were compared using Fisher's exact test. ERAP1 haplotypes imputed from the International Genetics of AS Consortium (IGAS) Immunochip study were also studied. In the family study, we identified only four common ERAP1 haplotypes ("VRNQE," "MKDRQ," "MRDRE," and "MKDRE") in both AS cases and controls apart from two rare (<0.5%) previously unreported haplotypes. There were no examples of the unusual ERAP1 haplotype combination ("*001/*005") previously reported by others in 53% of AS cases. As expected, K528-bearing haplotypes were increased in the AS family study (AS 43% vs. control 35%), due particularly to an increase in the MKDRQ haplotype (AS 35% vs. control 25%, P = 0.01). This trend was replicated in the imputed Immunochip data for the two K528-bearing haplotypes MKDRQ (AS 33% vs. controls 27%, P = 1.2 × 10
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