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A candidate gene study of the type I interferon pathway implicates IKBKE and IL8 as risk loci for SLE.
Sandling JK, Garnier S, Sigurdsson S, Wang C, Nordmark G, Gunnarsson I, Svenungsson E, Padyukov L, Sturfelt G, Jönsen A, Bengtsson AA, Truedsson L, Eriksson C, Rantapää-Dahlqvist S, Mälarstig A, Strawbridge RJ, Hamsten A, Criswell LA, Graham RR, Behrens TW, Eloranta ML, Alm G, Rönnblom L, Syvänen AC. Sandling JK, et al. Eur J Hum Genet. 2011 Apr;19(4):479-84. doi: 10.1038/ejhg.2010.197. Epub 2010 Dec 22. Eur J Hum Genet. 2011. PMID: 21179067 Free PMC article.
A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5.
Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen AC, Rönnblom L. Sigurdsson S, et al. Hum Mol Genet. 2008 Sep 15;17(18):2868-76. doi: 10.1093/hmg/ddn184. Epub 2008 Jun 25. Hum Mol Genet. 2008. PMID: 18579578 Free PMC article.
Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5 bp length polymorphism as strong risk factor for systemic lupus erythematosus.
Sigurdsson S, Göring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, Eloranta ML, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Barnes BJ, Alm G, Rönnblom L, Syvänen AC. Sigurdsson S, et al. Hum Mol Genet. 2008 Mar 15;17(6):872-81. doi: 10.1093/hmg/ddm359. Epub 2007 Dec 6. Hum Mol Genet. 2008. PMID: 18063667
Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
Sigurdsson S, Nordmark G, Göring HH, Lindroos K, Wiman AC, Sturfelt G, Jönsen A, Rantapää-Dahlqvist S, Möller B, Kere J, Koskenmies S, Widén E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Rönnblom L, Syvänen AC. Sigurdsson S, et al. Am J Hum Genet. 2005 Mar;76(3):528-37. doi: 10.1086/428480. Epub 2005 Jan 18. Am J Hum Genet. 2005. PMID: 15657875 Free PMC article.
The type I interferon system in the development of lupus.
Rönnblom L, Alm GV, Eloranta ML. Rönnblom L, et al. Among authors: alm gv. Semin Immunol. 2011 Apr;23(2):113-21. doi: 10.1016/j.smim.2011.01.009. Epub 2011 Feb 2. Semin Immunol. 2011. PMID: 21292501 Review.
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