ArticleArthritis research & therapy2012
ERAP1 genetic variations associated with HLA-B27 interaction and disease severity of syndesmophytes formation in Taiwanese ankylosing spondylitis.
Article in Arthritis research & therapy, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: A meta-analysis of East Asian Population.Medicine · 2018Pooled it
- Bioinformatics analysis of genetic variants of endoplasmic reticulum aminopeptidase 1 in ankylosing spondylitis.Molecular medicine reports · 2017Pooled it
- Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis.Clinical rheumatology · 2016Pooled it
- Human Leukocyte Antigen C*12:02:02 and Killer Immunoglobulin-Like Receptor 2DL5 are Distinctly Associated with Ankylosing Spondylitis in the Taiwanese.International journal of molecular sciences · 2017Trial
- Exploring the Pathogenesis of Spondylarthritis beyond HLA-B27: A Descriptive Review.International journal of molecular sciences · 2024Review
- The Role of Aminopeptidase ERAP1 in Human Pathology-A Review.Current issues in molecular biology · 2024Review
- Review
- FunctionalCells · 2022Article
- The roles of Single Nucleotide Polymorphism (SNP) Endoplasmic Reticulum Aminopeptidase 1 (ERAP 1) gene in axial spondyloarthritis Indonesian adults.Annals of medicine and surgery (2012) · 2022Article
- Article
- Genetics, Epigenetics, and Gender Impact in Axial-Spondyloarthritis Susceptibility: An Update on Genetic Polymorphisms and Their Sex Related Associations.Frontiers in genetics · 2021Review
- MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions.Arthritis research & therapy · 2020Article
- Features of trunk muscle weakness in patients with ankylosing spondylitis: A cross-sectional study.Biomedical journal · 2019Article
- Ankylosing spondylitis: etiology, pathogenesis, and treatments.Bone research · 2019Article
- Epistatic Interaction of ERAP1 and HLA-B*51 in Iranian Patients with Behçet's Disease.Scientific reports · 2018Article
- ERAP1/ERAP2 and RUNX3 polymorphisms are not associated with ankylosing spondylitis susceptibility in Chinese Han.Clinical and experimental immunology · 2018Article
- ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis.Clinical rheumatology · 2017Article
- The Human Leukocyte Antigen (HLA)-B27 PeptidomeMolecular & cellular proteomics : MCP · 2017Article
- rs657075 (CSF2) Is Associated with the Disease Phenotype (BAS-G) of Ankylosing Spondylitis.International journal of molecular sciences · 2017Article
- Association ofThe open rheumatology journal · 2017Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionAnkylosing spondylitis (AS) is a familial, heritable disease specified by syndesmophyte formation leading to an ankylosed spine. Endoplasmic reticulum aminopeptidase 1 (ERAP1) genetic variations have been widely proved to be associated with AS in several ethnic populations. The aim of this study was to investigate whether ERAP1 single nucleotide polymorphisms (SNPs) are associated with AS susceptibility and disease severity in Taiwanese.
methodsFour ERAP1 SNPs (rs27037, rs27980, rs27044 and rs30187) were genotyped in 797 Taiwanese AS patients and 1,150 healthy controls. Distributions of genotype and alleles were compared between AS patients and healthy controls, and among AS patients stratified by clinical parameters.
resultsThe SNP rs27037T allele appeared to be a risk factor for AS susceptibility (P = 5.5 × 10-5, OR 1.30, 95% CI: 1.15 to 1.48; GT+TT vs. GG P = 9.3 × 10-5, OR 1.49, 95% CI: 1.22 to 1.82). In addition, the coding SNP (cSNP) rs27044G allele (P = 1.5 × 10-4, OR 1.28, 95% CI: 1.13 to 1.46; CG+GG vs. CC, P = 1.7 × 10-3, OR 1.44, 95% CI: 1.15 to 1.81) and the cSNP rs30187T allele (P = 1.7 × 10-3, OR 1.23, 95% CI: 1.08 to 1.40; CT+TT vs. CC P = 6.1 × 10-3, OR 1.38, 95% CI: 1.10 to 1.74) were predisposing factors for AS. Notably, the rs27044G allele carriers (CG+GG vs. CC, P = 0.015, OR 1.59, 95% CI: 1.33 to 2.30) and rs30187T allele carriers (CT+TT vs. CC, P = 0.011, OR 1.63, 95% CI: 1.12 to 2.38) were susceptible to syndesmophyte formation in AS patients. Furthermore, two cSNPs (rs27044 and rs30187) strongly associated with HLA-B27 positivity in AS patients. Finally, the ERAP1 SNP haplotype TCG (rs27037T/rs27980C/rs27044G) is a major risk factor for AS (adjusted P <0.00001, OR 1.38, 95% CI: 1.12 to 1.58) in Taiwanese.
conclusionsThis study provides the first evidence of ERAP1 SNPs involving syndesmophyte formation. The interactions between ERAP1 SNPs and HLA-B27 play critical roles in pMHC I pathway processing contributing to the pathogenesis of AS in multiple populations.
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