ArticleArthritis research & therapy2015
An HLA-C amino-acid variant in addition to HLA-B*27 confers risk for ankylosing spondylitis in the Korean population.
Article in Arthritis research & therapy, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Association of HLA-B27 with ankylosing spondylitis and clinical features of the HLA-B27-associated ankylosing spondylitis: a meta-analysis.Rheumatology international · 2017Pooled it
- Multi-omic insights from a multi-ancestry genome-wide meta-analysis of ankylosing spondylitis reveal novel pathways of disease susceptibility.Research square · 2025Article
- Exploring the Pathogenesis of Spondylarthritis beyond HLA-B27: A Descriptive Review.International journal of molecular sciences · 2024Review
- Genome-Wide Association Study Identifies IFIH1 and HLA-DQB1*05:02 Loci Associated With Anti-NMDAR Encephalitis.Neurology(R) neuroimmunology & neuroinflammation · 2024Article
- Analysis of m6A regulators related immune characteristics in ankylosing spondylitis by integrated bioinformatics and computational strategies.Scientific reports · 2024Article
- Clinical and genetic factors associated with radiographic damage in patients with ankylosing spondylitis.Annals of the rheumatic diseases · 2023Article
- Genetics of Ankylosing Spondylitis-Focusing on the Ethnic Difference Between East Asia and Europe.Frontiers in genetics · 2021Review
- The Genetics of Spondyloarthritis.Journal of personalized medicine · 2020Review
- Association between C-reactive protein gene variant and treatment efficacy of etanercept in ankylosing spondylitis patients receiving hip arthroplasty.Journal of clinical laboratory analysis · 2020Article
- MHC associations of ankylosing spondylitis in East Asians are complex and involve non-HLA-B27 HLA contributions.Arthritis research & therapy · 2020Article
- HLA-C*07 in axial spondyloarthritis: data from the German Spondyloarthritis Inception Cohort and the Spondyloarthritis Caught Early cohort.Genes and immunity · 2019Article
- HLA-C: An Accomplice in Rheumatic Diseases.ACR open rheumatology · 2019Review
- HLA-C variants associated with amino acid substitutions in the peptide binding groove influence susceptibility to Kawasaki disease.Human immunology · 2019Article
- Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.RMD open · 2018Article
- Progress of genome-wide association studies of ankylosing spondylitis.Clinical & translational immunology · 2017Review
- Genetics and the Causes of Ankylosing Spondylitis.Rheumatic diseases clinics of North America · 2017Review
- Genome-wide DNA methylation profile analysis identifies differentially methylated loci associated with ankylosis spondylitis.Arthritis research & therapy · 2017Article
- Pathogenesis of ankylosing spondylitis - recent advances and future directions.Nature reviews. Rheumatology · 2017Review
- Phenome-wide scanning identifies multiple diseases and disease severity phenotypes associated with HLA variants.Science translational medicine · 2017Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
introductionThe presence of the HLA-B*27 allele is a major risk factor for the development of ankylosing spondylitis (AS), which causes chronic inflammation of the spine and other sites. We investigated residual effects outside HLA-B within the major histocompatibility complex (MHC) region in the Korean population.
methodsUsing the Korean HLA reference panel, we inferred the classic HLA alleles and amino-acid residues of the six HLA genes (HLA-A, -B, -C, -DPB1, -DQB1, and -DRB1) and MHC single-nucleotide polymorphisms in 3820 Korean subjects, including 654 Korean cases of AS and 3166 controls, who were genotyped by using Immunochip. Logistic regression and log-likelihood ratio tests were used in AS association tests for imputed markers.
resultsThe most significant associations were identified at amino-acid positions in the epitope-binding site of HLA-B (P = 1.71 × 10(-481) at position 70, P = 7.20 × 10(-479) at position 97, and P = 2.54 × 10(-484) at positions 114), highlighting the risk effect of the HLA-B*27 allele and the protective effects of other classic alleles. A secondary effect was located at the leucine at amino-acid position 116 in the epitope-binding site of HLA-C (P = 1.69 × 10(-14)), completely tagging the HLA-C*15:02 allele. This residue had a large effect in HLA-B*27-negative patients (odds ratio = 6.6, 95 % confidence interval = 3.8 to 11.4).
conclusionsThe four amino-acid positions of HLA-B and -C account for most of the associations between AS and MHC in the Korean population. This finding updates the list of AS susceptibility loci and provides new insight into AS pathogenesis mediated by MHC class I molecules.
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