ArticlePloS one2012
Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.
Article in PloS one, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 30 citations in OpenAlex.
- Trans-ancestry, Bayesian meta-analysis discovers 20 novel risk loci for inflammatory bowel disease in an African American, East Asian and European cohort.Human molecular genetics · 2023Pooled it
- Polymorphisms of BLK are associated with renal disorder in patients with systemic lupus erythematosus.Journal of human genetics · 2020Pooled it
- Association of STAT4 polymorphism with severe renal insufficiency in lupus nephritis.PloS one · 2013Trial
- Genomic Landscape of Systemic Lupus Erythematosus and Lupus Nephritis Globally and the Gaps in Africa.International journal of molecular sciences · 2026Review
- [Update on lupus nephritis].Zeitschrift fur Rheumatologie · 2024Review
- Lupus Nephritis: Current Perspectives and Moving Forward.Journal of inflammation research · 2022Review
- Pathogenic Single Nucleotide Polymorphisms on Autophagy-Related Genes.International journal of molecular sciences · 2020Review
- Genetic variants in systemic lupus erythematosus susceptibility loci, XKR6 and GLT1D1 are associated with childhood-onset SLE in a Korean cohort.Scientific reports · 2018Article
- Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations.Clinical rheumatology · 2016Article
- Methyl-CpG-Binding Protein 2 (MECP2) Polymorphism in Iranian Patients with Systemic Lupus Erythematosus.Inflammation · 2015Article
- Association of mtDNA M/N haplogroups with systemic lupus erythematosus: a case-control study of Han Chinese women.Scientific reports · 2015Article
- Exposure of phosphatidylserine by Xk-related protein family members during apoptosis.The Journal of biological chemistry · 2014Article
- Genomic alterations in abnormal neutrophils isolated from adult patients with systemic lupus erythematosus.Arthritis research & therapy · 2014Article
- Clinical perspectives on lupus genetics: advances and opportunities.Rheumatic diseases clinics of North America · 2014Review
- Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.Arthritis research & therapy · 2014Article
- STAT4 gene polymorphisms are associated with susceptibility and ANA status in primary biliary cirrhosis.Disease markers · 2014Article
- Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
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Authors and funding
24 authors at 18 institutions in 10 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionSystemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question.
methodsEuropean SLE patients, 1444, recruited at 17 centres from 10 countries were analyzed. Genotypes for 26 SLE associated SNPs were compared between patients with and without each of 11 clinical features: ten of the American College of Rheumatology (ACR) classification criteria (except ANAs) and age of disease onset. These analyses were adjusted for centre of recruitment, top ancestry informative markers, gender and time of follow-up. Overlap of samples with previous studies was excluded for assessing replication.
resultsTHERE WERE THREE NEW ASSOCIATIONS: the SNPs in XKR6 and in FAM167A-BLK were associated with lupus nephritis (OR=0.76 and 1.30, P(corr) =0.007 and 0.03, respectively) and the SNP of MECP2, which is in chromosome X, with earlier age of disease onset in men. The previously reported association of STAT4 with early age of disease onset was replicated. Some other results were suggestive of the presence of additional associations. Together, the association signals provided support to some previous findings and to the characterization of lupus nephritis, autoantibodies and age of disease onset as the clinical features more associated with SLE loci.
conclusionSome of the SLE loci shape the disease phenotype in addition to increase susceptibility to SLE. This influence is more prominent for some clinical features than for others. However, results are only partially consistent between studies and subphenotype specific GWAS are needed to unravel their genetic component.
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