ArticlePloS one2013
PTPN22 association in systemic lupus erythematosus (SLE) with respect to individual ancestry and clinical sub-phenotypes.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
26 citing papers in PubMed, 64 citations in OpenAlex.
- 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
- Gene Expression and Autoantibody Analysis Revealing Distinct Ancestry-Specific Profiles Associated With Response to Rituximab in Refractory Systemic Lupus Erythematosus.Arthritis & rheumatology (Hoboken, N.J.) · 2023Article
- Genetic Polymorphism ofMedicina (Kaunas, Lithuania) · 2022Review
- Implications of Endogenous Retroelements in the Etiopathogenesis of Systemic Lupus Erythematosus.Journal of clinical medicine · 2021Review
- Genetic and molecular biology of systemic lupus erythematosus among Iranian patients: an overview.Auto- immunity highlights · 2021Review
- SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression.Nature communications · 2021Article
- Update on the Genetics of Systemic Lupus Erythematosus: Genome-Wide Association Studies and Beyond.Cells · 2019Review
- Non-receptor tyrosine kinase signaling in autoimmunity and therapeutic implications.Pharmacology & therapeutics · 2019Review
- Novel missense mutation in PTPN22 in a Chinese pedigree with Hashimoto's thyroiditis.BMC endocrine disorders · 2018Article
- High prevalence of protein tyrosine phosphatase non-receptor N22 gene functional variant R620W in systemic lupus erythematosus patients from Kuwait: implications for disease susceptibility.BMC rheumatology · 2018Article
- Updates in Lupus Genetics.Current rheumatology reports · 2017Review
- The PTPN22 R263Q polymorphism confers protection against systemic lupus erythematosus and rheumatoid arthritis, while PTPN22 R620W confers susceptibility to Graves' disease in a Mexican population.Inflammation research : official journal of the European Histamine Research Society ... [et al.] · 2017Article
- Genome-wide pathway analysis identifies VEGF pathway association with oral ulceration in systemic lupus erythematosus.Arthritis research & therapy · 2017Article
- Characterization of the Asian Phenotype - An Emerging Paradigm with Clinicopathological and Human Research Implications.International journal of medical sciences · 2017Review
- KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex.Addiction biology · 2016Article
- Distribution of PTPN22 polymorphisms in SLE from western Mexico: correlation with mRNA expression and disease activity.Clinical and experimental medicine · 2016Article
- Application of Various Statistical Models to Explore Gene-Gene Interactions in Folate, Xenobiotic, Toll-Like Receptor and STAT4 Pathways that Modulate Susceptibility to Systemic Lupus Erythematosus.Molecular diagnosis & therapy · 2016Article
- Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.Nature genetics · 2015Article
- Lupus Nephritis: A Different Disease in European Patients?Kidney diseases (Basel, Switzerland) · 2015Review
Corrections and comments
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Authors and funding
41 authors at 17 institutions in 7 countries.
Funding
Abstract
Protein tyrosine phosphatase non-receptor type 22 (PTPN22) is a negative regulator of T-cell activation associated with several autoimmune diseases, including systemic lupus erythematosus (SLE). Missense rs2476601 is associated with SLE in individuals with European ancestry. Since the rs2476601 risk allele frequency differs dramatically across ethnicities, we assessed robustness of PTPN22 association with SLE and its clinical sub-phenotypes across four ethnically diverse populations. Ten SNPs were genotyped in 8220 SLE cases and 7369 controls from in European-Americans (EA), African-Americans (AA), Asians (AS), and Hispanics (HS). We performed imputation-based association followed by conditional analysis to identify independent associations. Significantly associated SNPs were tested for association with SLE clinical sub-phenotypes, including autoantibody profiles. Multiple testing was accounted for by using false discovery rate. We successfully imputed and tested allelic association for 107 SNPs within the PTPN22 region and detected evidence of ethnic-specific associations from EA and HS. In EA, the strongest association was at rs2476601 (P = 4.7 × 10(-9), OR = 1.40 (95% CI = 1.25-1.56)). Independent association with rs1217414 was also observed in EA, and both SNPs are correlated with increased European ancestry. For HS imputed intronic SNP, rs3765598, predicted to be a cis-eQTL, was associated (P = 0.007, OR = 0.79 and 95% CI = 0.67-0.94). No significant associations were observed in AA or AS. Case-only analysis using lupus-related clinical criteria revealed differences between EA SLE patients positive for moderate to high titers of IgG anti-cardiolipin (aCL IgG >20) versus negative aCL IgG at rs2476601 (P = 0.012, OR = 1.65). Association was reinforced when these cases were compared to controls (P = 2.7 × 10(-5), OR = 2.11). Our results validate that rs2476601 is the most significantly associated SNP in individuals with European ancestry. Additionally, rs1217414 and rs3765598 may be associated with SLE. Further studies are required to confirm the involvement of rs2476601 with aCL IgG.
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