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A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus

Gateva, Vesela (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
Sandling, Johanna K. (author)
Uppsala universitet,Molekylär medicin,Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Hom, Geoff (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
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Taylor, Kimberly E. (author)
Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California, San Francisco, California, USA
Chung, Sharon A. (author)
Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California, San Francisco, California, USA
Sun, Xin (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
Ortmann, Ward (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
Kosoy, Roman (author)
Rowe Program in Genetics, University of California at Davis, Davis, California, USA
Ferreira, Ricardo C. (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
Nordmark, Gunnel (author)
Uppsala universitet,Institutionen för medicinska vetenskaper,Rheumatology, Systemic Autoimmmune Diseases,Section of Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Gunnarsson, Iva (author)
Karolinska Institutet
Svenungsson, Elisabet (author)
Karolinska Institutet
Padyukov, Leonid (author)
Karolinska Institutet
Sturfelt, Gunnar (author)
Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
Jönsen, Andreas (author)
Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
Bengtsson, Anders (author)
Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine
Rantapää-Dahlqvist, Solbritt (author)
Umeå universitet,Reumatologi
Baechler, Emily C. (author)
Center for Immunology, University of Minnesota Medical School, Minneapolis, Minnesota, USA
Brown, Elizabeth E. (author)
University of Alabama at Birmingham, Birmingham, Alabama, USA
Alarcón, Graciela S. (author)
University of Alabama at Birmingham, Birmingham, Alabama, USA
Edberg, Jeffrey C. (author)
University of Alabama at Birmingham, Birmingham, Alabama, USA
Ramsey-Goldman, Rosalind (author)
Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA
McGwin, Gerald (author)
University of Alabama at Birmingham, Birmingham, Alabama, USA
Reveille, John D. (author)
University of Texas–Houston Health Science Center, Houston, Texas, USA
Vilá, Luis M. (author)
University of Puerto Rico Medical Science Campus, San Juan, Puerto Rico
Kimberly, Robert P. (author)
University of Alabama at Birmingham, Birmingham, Alabama, USA
Manzi, Susan (author)
University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA
Petri, Michelle A. (author)
Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Lee, Annette (author)
The Feinstein Institute for Medical Research, North Shore–Long Island Jewish Health System, Manhasset, New York, USA
Gregersen, Peter K. (author)
The Feinstein Institute for Medical Research, North Shore–Long Island Jewish Health System, Manhasset, New York, USA
Seldin, Michael F. (author)
Rowe Program in Genetics, University of California at Davis, Davis, California, USA
Rönnblom, Lars (author)
Uppsala universitet,Institutionen för medicinska vetenskaper,Rheumatology, Systemic Autoimmmune Diseases,Section of Rheumatology, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Criswell, Lindsey A. (author)
Rosalind Russell Medical Research Center for Arthritis, Department of Medicine, University of California, San Francisco, California, USA
Syvänen, Ann-Christine (author)
Uppsala universitet,Molekylär medicin,Molecular Medicine, Department of Medical Sciences, Uppsala University, Uppsala, Sweden
Behrens, Timothy W. (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
Graham, Robert R. (author)
Immunology Biomarkers Group, Genentech, South San Francisco, California, USA
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 (creator_code:org_t)
2009-10-18
2009
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 41:11, s. 1228-1233
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)

Keyword

type I IFN system
autoimmunity
lupus
SLE
risk genes
MEDICINE
MEDICIN
Medicin
Medicine

Publication and Content Type

ref (subject category)
art (subject category)

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