ArticleArthritis and rheumatism2009
HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans.
Article in Arthritis and rheumatism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 5 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
58 citing papers in PubMed, 5 syntheses or guidelines pooled it, 128 citations in OpenAlex.
- Epidemiology of systemic sclerosis in the Asia-Pacific region: a systematic review and meta-analysis.Annals of medicine · 2025Pooled it
- GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the Fcγ receptor region.Nature communications · 2024Pooled it
- Unfolding the pathogenesis of scleroderma through genomics and epigenomics.Journal of autoimmunity · 2017Pooled it
- Transethnic meta-analysis identifiesAnnals of the rheumatic diseases · 2017Pooled it
- Pooled it
- Genetic architecture differences between pediatric and adult-onset inflammatory bowel diseases in the Polish population.Scientific reports · 2016Trial
- Trial
- Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk.Annals of the rheumatic diseases · 2025Article
- Lack of association of the PLD4 SNP rs2841277 with systemic sclerosis in a European American population.Scientific reports · 2024Article
- Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms.Immunogenetics · 2024Article
- Immunogenetics of Systemic Sclerosis.Genes · 2024Review
- NKp44/HLA-DP-dependent regulation of CD8 effector T cells by NK cells.Cell reports · 2024Article
- Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome.Annals of the rheumatic diseases · 2024Article
- Human leukocyte antigen association in systemic sclerosis patients: our experience at a tertiary care center in North India.Frontiers in immunology · 2023Article
- Systemic sclerosis in Asians: Are there racial differences?Journal of scleroderma and related disorders · 2022Review
- Updates on genetics in systemic sclerosis.Inflammation and regeneration · 2021Review
- Broadening our understanding of genetic risk for scleroderma/systemic sclerosis by querying the chromatin architecture surrounding the risk haplotypes.BMC medical genomics · 2021Article
- Increased Frequency of Activated Switched Memory B Cells and Its Association With the Presence of Pulmonary Fibrosis in Diffuse Cutaneous Systemic Sclerosis Patients.Frontiers in immunology · 2021Article
- Genetic association study of interferon lambda 3, CD27, and human leukocyte antigen-DPB1 with dengue severity in Thailand.BMC infectious diseases · 2020Article
- Molecular "omic" signatures in systemic sclerosis.European journal of rheumatology · 2020Review
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveTo identify systemic sclerosis (SSc) susceptibility loci via a genome-wide association study.
methodsA genome-wide association study was performed in 137 patients with SSc and 564 controls from Korea using the Affymetrix Human SNP Array 5.0. After fine-mapping studies, the results were replicated in 1,107 SSc patients and 2,747 controls from a US Caucasian population.
resultsThe single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). Subtyping analysis of HLA-DPB1 showed that DPB1*1301 (P=7.61x10(-8)) and DPB1*0901 (P=2.55x10(-5)) were the subtypes most susceptible to SSc in Korean subjects. In US Caucasians, 2 pairs of SNPs, rs7763822/rs7764491 and rs3117230/rs3128965, showed strong association with SSc patients who had either circulating anti-DNA topoisomerase I (P=7.58x10(-17)/4.84x10(-16)) or anticentromere autoantibodies (P=1.12x10(-3)/3.2x10(-5)), respectively.
conclusionThe results of our genome-wide association study in Korean subjects indicate that the region of HLA-DPB1 and DPB2 contains the loci most susceptible to SSc in a Korean population. The confirmatory studies in US Caucasians indicate that specific SNPs of HLA-DPB1 and/or DPB2 are strongly associated with US Caucasian patients with SSc who are positive for anti-DNA topoisomerase I or anticentromere autoantibodies.
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