ArticleAmerican journal of human genetics2011
Identification of a systemic lupus erythematosus susceptibility locus at 11p13 between PDHX and CD44 in a multiethnic study.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 5 of them syntheses that pooled it.
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Who cites it
53 citing papers in PubMed, 5 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- Novel linkage disequilibrium clustering algorithm identifies new lupus genes on meta-analysis of GWAS datasets.Immunogenetics · 2017Pooled it
- A meta-analysis of the association of IL-6 -174 G/C and -572 G/C polymorphisms with systemic lupus erythematosus risk.Rheumatology international · 2014Pooled it
- Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.American journal of human genetics · 2013Pooled it
- Meta-analysis of genetic polymorphisms in granulomatosis with polyangiitis (Wegener's) reveals shared susceptibility loci with rheumatoid arthritis.Arthritis and rheumatism · 2012Pooled it
- Multicohort genomewide association study reveals a new signal of protection against HIV-1 acquisition.The Journal of infectious diseases · 2012Pooled it
- A plausibly causal functional lupus-associated risk variant in the STAT1-STAT4 locus.Human molecular genetics · 2018Trial
- A highly prevalent lupus risk haplotype increases IRF7-dependent induction of IFN-α, enhancing antiviral defense and exacerbating autoimmunity.American journal of human genetics · 2026Article
- Genetic risk factors and clinical manifestations of systemic lupus erythematosus: Large-scale analysis of genetic predisposition and disease subtypes.Journal of internal medicine · 2026Article
- The intricate relationship between autoimmunity disease and neutrophils death patterns: a love-hate story.Apoptosis : an international journal on programmed cell death · 2023Review
- Immunogenetics of Lupus Erythematosus.Advances in experimental medicine and biology · 2022Article
- Understanding the genetics of systemic lupus erythematosus using Bayesian statistics and gene network analysis.Clinical and experimental pediatrics · 2021Article
- 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
- Sex influences eQTL effects of SLE and Sjögren's syndrome-associated genetic polymorphisms.Biology of sex differences · 2017Article
- BLK pathway-associated rs13277113 GA genotype is more frequent in SLE patients and associated with low gene expression and increased flares.Clinical rheumatology · 2017Article
- Several Critical Cell Types, Tissues, and Pathways Are Implicated in Genome-Wide Association Studies for Systemic Lupus Erythematosus.G3 (Bethesda, Md.) · 2016Article
- Preferential association of a functional variant in complement receptor 2 with antibodies to double-stranded DNA.Annals of the rheumatic diseases · 2016Article
- Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry.Arthritis & rheumatology (Hoboken, N.J.) · 2016Article
- Solving the genetic puzzle of systemic lupus erythematosus.Pediatric nephrology (Berlin, Germany) · 2015Review
- Assessment and management of hypertension in transplant patients.Journal of the American Society of Nephrology : JASN · 2015Review
Corrections and comments
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Authors and funding
45 authors at 20 institutions in 9 countries.
Funding
Abstract
Systemic lupus erythematosus (SLE) is considered to be the prototypic autoimmune disease, with a complex genetic architecture influenced by environmental factors. We sought to replicate a putative association at 11p13 not yet exceeding genome-wide significance (p < 5 × 10(-8)) identified in a genome-wide association study (GWAS). Our GWA scan identified two intergenic SNPs located between PDHX and CD44 showing suggestive evidence of association with SLE in cases of European descent (rs2732552, p = 0.004, odds ratio [OR] = 0.78; rs387619, p = 0.003, OR = 0.78). The replication cohort consisted of >15,000 subjects, including 3562 SLE cases and 3491 controls of European ancestry, 1527 cases and 1811 controls of African American (AA) descent, and 1265 cases and 1260 controls of Asian origin. We observed robust association at both rs2732552 (p = 9.03 × 10(-8), OR = 0.83) and rs387619 (p = 7.7 × 10(-7), OR = 0.83) in the European samples with p(meta) = 1.82 × 10(-9) for rs2732552. The AA and Asian SLE cases also demonstrated association at rs2732552 (p = 5 × 10(-3), OR = 0.81 and p = 4.3 × 10(-4), OR = 0.80, respectively). A meta-analysis of rs2732552 for all racial and ethnic groups studied produced p(meta) = 2.36 × 10(-13). This locus contains multiple regulatory sites that could potentially affect expression and functions of CD44, a cell-surface glycoprotein influencing immunologic, inflammatory, and oncologic phenotypes, or PDHX, a subunit of the pyruvate dehydrogenase complex.
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Registered trials
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.