ArticleClinical & developmental immunology2012
Gene-expression-guided selection of candidate loci and molecular phenotype analyses enhance genetic discovery in systemic lupus erythematosus.
Article in Clinical & developmental immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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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
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- Genetic variation near IRF8 is associated with serologic and cytokine profiles in systemic lupus erythematosus and multiple sclerosis.Genes and immunity · 2013Pooled it
- Type I interferon in the pathogenesis of systemic lupus erythematosus.Current opinion in immunology · 2020Review
- Defining biological subsets in systemic lupus erythematosus: progress toward personalized therapy.Pharmaceutical medicine · 2017Article
- Genetic association study of systemic lupus erythematosus and disease subphenotypes in European populations.Clinical rheumatology · 2016Article
- Advances in lupus genetics.Current opinion in rheumatology · 2015Review
- Interferon regulatory factors: critical mediators of human lupus.Translational research : the journal of laboratory and clinical medicine · 2015Review
- Dysregulation of antiviral helicase pathways in systemic lupus erythematosus.Frontiers in genetics · 2014Review
- Systemic lupus erythematosus diagnostics in the 'omics' era.International journal of clinical rheumatology · 2013Article
- Nucleic Acid sensors and type I interferon production in systemic lupus erythematosus.Frontiers in immunology · 2013Review
- Activation of the Interferon Pathway is Dependent Upon Autoantibodies in African-American SLE Patients, but Not in European-American SLE Patients.Frontiers in immunology · 2013Article
- Genetics of SLE: functional relevance for monocytes/macrophages in disease.Clinical & developmental immunology · 2012Review
- Genetic analysis of the pathogenic molecular sub-phenotype interferon-alpha identifies multiple novel loci involved in systemic lupus erythematosus.Genes and immunityArticle
Corrections and comments
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Systemic lupus erythematosus (SLE) is a highly heterogeneous autoimmune disorder characterized by differences in autoantibody profiles, serum cytokines, and clinical manifestations. We have previously conducted a case-case genome-wide association study (GWAS) of SLE patients to detect associations with autoantibody profile and serum interferon alpha (IFN-α). In this study, we used public gene expression data sets to rationally select additional single nucleotide polymorphisms (SNPs) for validation. The top 200 GWAS SNPs were searched in a database which compares genome-wide expression data to genome-wide SNP genotype data in HapMap cell lines. SNPs were chosen for validation if they were associated with differential expression of 15 or more genes at a significance of P < 9 × 10(-5). This resulted in 11 SNPs which were genotyped in 453 SLE patients and 418 matched controls. Three SNPs were associated with SLE-associated autoantibodies, and one of these SNPs was also associated with serum IFN-α (P < 4.5 × 10(-3) for all). One additional SNP was associated exclusively with serum IFN-α. Case-control analysis was insensitive to these molecular subphenotype associations. This study illustrates the use of gene expression data to rationally select candidate loci in autoimmune disease, and the utility of stratification by molecular phenotypes in the discovery of additional genetic associations in SLE.
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