Document Detail

A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles.
MedLine Citation:
PMID:  20962850     Owner:  NLM     Status:  In-Data-Review    
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.
M L Budarf; P Goyette; G Boucher; J Lian; R R Graham; J O Claudio; T Hudson; D Gladman; A E Clarke; J E Pope; C Peschken; C D Smith; J Hanly; E Rich; G Boire; S G Barr; M Zummer; ; P R Fortin; J Wither; J D Rioux
Publication Detail:
Type:  Journal Article     Date:  2010-10-21
Journal Detail:
Title:  Genes and immunity     Volume:  12     ISSN:  1476-5470     ISO Abbreviation:  Genes Immun.     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-01-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100953417     Medline TA:  Genes Immun     Country:  England    
Other Details:
Languages:  eng     Pagination:  51-8     Citation Subset:  IM    
Research Center, Montreal Heart Institute, Montreal, Quebec, Canada.
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