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A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA.
Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA.
Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California, San Francisco, California, USA.
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2009 (English)In: Nature genetics, ISSN 1546-1718, Vol. 41, no 11, 1228-1233 p.Article in journal (Refereed) Published
Abstract [en]

Genome-wide association studies have recently identified at least 15 susceptibility loci for systemic lupus erythematosus (SLE). To confirm additional risk loci, we selected SNPs from 2,466 regions that showed nominal evidence of association to SLE (P < 0.05) in a genome-wide study and genotyped them in an independent sample of 1,963 cases and 4,329 controls. This replication effort identified five new SLE susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19). We identified 21 additional candidate loci with P< or = 1 x 10(-5). A candidate screen of alleles previously associated with other autoimmune diseases suggested five loci (P < 1 x 10(-3)) that may contribute to SLE: IFIH1, CFB, CLEC16A, IL12B and SH2B3. These results expand the number of confirmed and candidate SLE susceptibility loci and implicate several key immunologic pathways in SLE pathogenesis.

Place, publisher, year, edition, pages
2009. Vol. 41, no 11, 1228-1233 p.
National Category
Rheumatology and Autoimmunity
URN: urn:nbn:se:umu:diva-31020DOI: 10.1038/ng.468PubMedID: 19838195OAI: diva2:290513
Available from: 2010-01-27 Created: 2010-01-27 Last updated: 2012-02-13Bibliographically approved

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