期刊
GENES AND IMMUNITY
卷 12, 期 1, 页码 51-58出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2010.47
关键词
SLE; SLE association; T1D; inflammation; autoimmune
资金
- Canadian Institutes of Health Research [CIHR NSP 94825, CIHR 62843]
- Toronto Western Research Institute, Department of Medicine, University of Toronto
- Arthritis and Autoimmunity Research Centre Foundation at University Health Network
- Lupus Canada
Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Multiple genetic and environmental factors contribute to the pathogenesis of this disease. Recent genome-wide association studies have added substantially to the number of genes associated with SLE. To replicate some of these susceptibility loci, single-nucleotide polymorphisms reported to be associated to SLE were evaluated in a cohort of 245 well-phenotyped Canadian SLE trios. Our results replicate previously reported associations to alleles of interferon regulatory factor 5 (IRF5), major histocompatibility complex (MHC), tumor necrosis factor (ligand) superfamily member 4 (TNFSF4), Kell blood group complex subunit-related family member 6 (XKR6), B-cell scaffold protein with ankyrin repeats 1 (BANK1), protein tyrosine phosphatase non-receptor type 22 (PTPN22), ubiquitin-conjugating enzyme E2L 3 (UBE2L3) and islet cell autoantigen 1 (ICA1). We also identify putative associations to cytotoxic T-lymphocyte-associated protein 4 (CTLA4), a gene associated with several autoimmune disorders, and ERBB3, a locus on 12q13 that was previously reported to be associated with type 1 diabetes. This study confirms the existence of multiple genetic risk factors for SLE, and supports the notion that some risk factors for SLE are shared with other inflammatory disorders. Genes and Immunity (2011) 12, 51-58; doi: 10.1038/gene.2010.47; published online 21 October 2010
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