A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE

• Published in: European journal of human genetics : EJHG 2011-04, Vol.19 (4), p.479-484
• Main Authors: Sandling, Johanna K, Garnier, Sophie, Sigurdsson, Snaevar, Wang, Chuan, Nordmark, Gunnel, Gunnarsson, Iva, Svenungsson, Elisabet, Padyukov, Leonid, Sturfelt, Gunnar, Jönsen, Andreas, Bengtsson, Anders A, Truedsson, Lennart, Eriksson, Catharina, Rantapää-Dahlqvist, Solbritt, Mälarstig, Anders, Strawbridge, Rona J, Hamsten, Anders, Criswell, Lindsey A, Graham, Robert R, Behrens, Timothy W, Eloranta, Maija-Leena, Alm, Gunnar, Rönnblom, Lars, Syvänen, Ann-Christine
• Format: Article
• Language: English
• Subjects: 631/208/457/649; 631/208/727/2000; 631/80/86; 692/699/249/1313/1613; Autoimmune diseases; Basic Medicine; Biochemistry and Molecular Biology; Bioinformatics; Biokemi och molekylärbiologi; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; candidate gene; candidate gene study; Chemokines; Cytogenetics; Cytokines; European Continental Ancestry Group - genetics; Fundamental and applied biological sciences. Psychology; Gene Expression; General aspects. Genetic counseling; Genes; Genetic Predisposition to Disease; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genetik; Genome-Wide Association Study; Haplotypes; Hospitals; Human Genetics; Humans; I-kappa B Kinase - genetics; IKBKE; IL8; Interferon; Interferon Type I - immunology; Interleukin 8; Interleukin-8 - genetics; Life Sciences; Linkage Disequilibrium; Lupus; Lupus Erythematosus, Systemic - genetics; Lupus Erythematosus, Systemic - immunology; Medical and Health Sciences; Medical Genetics; Medical sciences; MEDICIN; Medicin och hälsovetenskap; MEDICINE; Medicinsk genetik; Medicinska och farmaceutiska grundvetenskaper; Molecular and cellular biology; Nervous system; Rheumatoid arthritis; Rheumatology; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Signal Transduction - genetics; Single-nucleotide polymorphism; Stat1 protein; STAT1 Transcription Factor; Stat4 protein; Studies; study; Sweden; Systemic lupus erythematosus; TRAF6 protein; Tyk2 protein; type I interferon system; α-Interferon
• ISSN: 1018-4813; 1476-5438; 1476-5438
• DOI: 10.1038/ejhg.2010.197

Systemic Lupus Erythematosus (SLE) is a systemic autoimmune disease in which the type I interferon pathway has a crucial role. We have previously shown that three genes in this pathway, IRF5, TYK2 and STAT4 , are strongly associated with risk for SLE. Here, we investigated 78 genes involved in the type I interferon pathway to identify additional SLE susceptibility loci. First, we genotyped 896 single-nucleotide polymorphisms in these 78 genes and 14 other candidate genes in 482 Swedish SLE patients and 536 controls. Genes with P