ArticleArthritis research & therapy2009
Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
Article in Arthritis research & therapy, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers, 8 of them syntheses that pooled it.
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Who cites it
78 citing papers in PubMed, 8 syntheses or guidelines pooled it, 143 citations in OpenAlex.
- B-cell lymphocyte kinase polymorphisms rs13277113, rs2736340, and rs4840568 and risk of autoimmune diseases: A meta-analysis.Medicine · 2017Pooled it
- Association between BLK polymorphisms and susceptibility to SLE : A meta-analysis.Zeitschrift fur Rheumatologie · 2017Pooled it
- Association between the functional ITGAM rs1143679 G/A polymorphism and systemic lupus erythematosus/lupus nephritis or rheumatoid arthritis: an update meta-analysis.Rheumatology international · 2015Pooled it
- Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.Arthritis and rheumatism · 2012Pooled it
- Associations between PXK and TYK2 polymorphisms and systemic lupus erythematosus: a meta-analysis.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2012Pooled it
- Association of STAT4 rs7574865 polymorphism with autoimmune diseases: a meta-analysis.Molecular biology reports · 2012Pooled it
- Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.Molecular biology reports · 2011Pooled it
- Meta-analysis of TYK2 gene polymorphisms association with susceptibility to autoimmune and inflammatory diseases.Molecular biology reports · 2011Pooled it
- The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus.Biomolecules · 2020Trial
- A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.Human molecular genetics · 2018Trial
- Genomic Landscape of Systemic Lupus Erythematosus and Lupus Nephritis Globally and the Gaps in Africa.International journal of molecular sciences · 2026Review
- Clinics and genetics of hyperhemolysis syndrome in patients with sickle cell disease.Transfusion · 2025Article
- Long Non-Coding RNAJournal of inflammation research · 2025Article
- Article
- Autoimmune and neuropsychiatric phenotypes in aFrontiers in immunology · 2024Article
- COVID-19 and systemic lupus erythematosus genetics: A balance between autoimmune disease risk and protection against infection.PLoS genetics · 2022Article
- Single Nucleotide Polymorphism rs6445975 in theIranian journal of public health · 2022Article
- Borrelia burgdorferi Is a Poor Inducer of Gamma Interferon: Amplification Induced by Interleukin-12.Infection and immunity · 2022Article
- Expanding Roles of Noncoding RNAs in the Pathogenesis of Systemic Lupus Erythematosus.Current rheumatology reports · 2022Review
- Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1.Frontiers in genetics · 2022Article
18 more citing papers are in PubMed but not listed here.
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Authors and funding
21 authors at 17 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWe aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.
methodsWe selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension. Comparison of allele frequencies between cases and controls was done with the Mantel-Haenszel approach to account for heterogeneity between sample collections.
resultsA previously controversial association with a SNP in the TYK2 gene was replicated (odds ratio (OR) = 0.79, P = 2.5 x 10-5), as well as association with the X chromosome MECP2 gene (OR = 1.26, P = 0.00085 in women), which had only been reported in a single study, and association with four other loci, 1q25.1 (OR = 0.81, P = 0.0001), PXK (OR = 1.19, P = 0.0038), BANK1 (OR = 0.83, P = 0.006) and KIAA1542 (OR = 0.84, P = 0.001), which have been identified in a genome-wide association study, but not found in any other study. All these replications showed the same disease-associated allele as originally reported. No association was found with the LY9 SNP, which had been reported in a single study.
conclusionsOur results confirm nine SLE loci. For six of them, TYK2, MECP2, 1q25.1, PXK, BANK1 and KIAA1542, this replication is important. The other three loci, ITGAM, STAT4 and C8orf13-BLK, were already clearly confirmed. Our results also suggest that MECP2 association has no influence in the sex bias of SLE, contrary to what has been proposed. In addition, none of the other associations seems important in this respect.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.