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

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 479-484

  Sandling, Johanna K ^a   Garnier, Sophie ^a,j   Sigurdsson, Snaevar ^a,k   Wang, Chuan ^a   Nordmark, Gunnel ^b   Gunnarsson, Iva ^c   Svenungsson, Elisabet ^c   Padyukov, Leonid ^c   Sturfelt, Gunnar ^d   Jönsen, Andreas ^d   Bengtsson, Anders A ^d   Truedsson, Lennart ^d   Eriksson, Catharina ^e   Rantapää Dahlqvist, Solbritt ^e   Mälarstig, Anders ^f   Strawbridge, Rona J ^f   Hamsten, Anders ^f   Criswell, Lindsey A ^g   Graham, Robert R ^h   Behrens, Timothy W ^h   Eloranta, Maija Leena ^b   Alm, Gunnar ⁱ   Rönnblom, Lars ^b   Syvänen, Ann Christine ^a   more..

^a UPPSALA UNIVERSITY HOSPITAL   (Sweden)

^b UPPSALA UNIVERSITY   (Sweden)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d LUND UNIVERSITY   (Sweden)

^e UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^f KAROLINSKA INSTITUTE   (Sweden)

^g UNIVERSITY OF CALIFORNIA   (United States)

^h GENENTECH INC   (United States)

ⁱ SWEDISH UNIVERSITY OF AGRICULTURAL SCIENCES   (Sweden)

^j INSERM   (France)

^k BROAD INSTITUTE OF MIT AND HARVARD   (United States)

more..

Author keywords

candidate gene study; IKBKE; IL8; single nucleotide polymorphism; systemic lupus erythematosus; type I interferon system

Indexed keywords

INTERFERON; INTERLEUKIN 8; STAT1 PROTEIN; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 6;

ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DATA ANALYSIS; GENE; GENE LOCUS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; IKBKE GENE; MAJOR CLINICAL STUDY; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SWEDEN; SYSTEMIC LUPUS ERYTHEMATOSUS; TANK GENE; UNITED STATES;

EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; I-KAPPA B KINASE; INTERFERON TYPE I; INTERLEUKIN-8; LINKAGE DISEQUILIBRIUM; LUPUS ERYTHEMATOSUS, SYSTEMIC; SIGNAL TRANSDUCTION; STAT1 TRANSCRIPTION FACTOR; SWEDEN;

EID: 79952773104     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.197     Document Type: Article

References (40)

1. Sigurdsson S, Nordmark G, Goring HH et al: Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005; 76: 528-537 (Pubitemid 40250533)
2. Remmers EF, Plenge RM, Lee AT et al: STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med 2007; 357: 977-986 (Pubitemid 47367077)
3. Graham RR, Hom G, Ortmann W, Behrens TW: Review of recent genome-wide association scans in lupus. J Intern Med 2009; 265: 680-688
4. Gateva V, Sandling JK, Hom G et al: A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 2009; 41: 1228-1233
5. Hooks JJ, Moutsopoulos HM, Geis SA, Stahl NI, Decker JL, Notkins AL: Immune interferon in the circulation of patients with autoimmune disease. N Engl J Med 1979; 301: 5-8 (Pubitemid 9226519)
6. Bengtsson AA, Sturfelt G, Truedsson L et al: Activation of type I interferon system in systemic lupus erythematosus correlates with disease activity but not with antiretroviral antibodies. Lupus 2000; 9: 664-671 (Pubitemid 32011791)
7. Baechler EC, Batliwalla FM, Karypis G et al: Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci USA 2003; 100: 2610-2615 (Pubitemid 36297546)
8. Ronnblom LE, Alm GV, Oberg KE: Possible induction of systemic lupus erythematosus by interferon-alpha treatment in a patient with a malignant carcinoid tumour. J Intern Med 1990; 227: 207-210 (Pubitemid 20075945)
9. Wallace DJ, Petri M, Olsen N et al: MEDI-545, an anti-interferon alpha monoclonal antibody, shows evidence of clinical activity in systemic lupus erythematosus. Arthritis Rheum 2007; 56(Suppl 9): S526-S527
10. Yao Y, Richman L, Higgs BW et al: Neutralization of interferon-alpha/ beta-inducible genes and downstream effect in a phase I trial of an anti-interferon-alpha monoclonal antibody in systemic lupus erythematosus. Arthritis Rheum 2009; 60: 1785-1796
11. Tan EM, Cohen AS, Fries JF et al: The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum 1982; 25: 1271-1277 (Pubitemid 13221242)
12. Bell PA, Chaturvedi S, Gelfand CA et al: SNPstream UHT: ultra-high throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 2002; (Suppl 74), 70-72, 76-77
13. Broadbent HM, Peden JF, Lorkowski S et al: Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p. Hum Mol Genet 2008; 17: 806-814 (Pubitemid 351359697)
14. Hom G, Graham RR, Modrek B et al: Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med 2008; 358: 900-909 (Pubitemid 351397089)
15. Marchini J, Howie B, Myers S, McVean G, Donnelly P: A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet 2007; 39: 906-913 (Pubitemid 47014502)
16. Price AL, Patterson NJ, Plenge RM, Weinblatt ME, Shadick NA, Reich D: Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet 2006; 38: 904-909 (Pubitemid 44141658)
17. Purcell S, Neale B, Todd-Brown K et al: PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007; 81: 559-575 (Pubitemid 47330214)
18. Sigurdsson S, Nordmark G, Garnier S et al: 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. Hum Mol Genet 2008; 17: 2868-2876
19. Sharma S, tenOever BR, Grandvaux N, Zhou GP, Lin R, Hiscott J: Triggering the interferon antiviral response through an IKK-related pathway. Science 2003; 300: 1148-1151 (Pubitemid 36583100)
20. Sankar S, Chan H, Romanow WJ, Li J, Bates RJ: IKK-i signals through IRF3 and NFkappaB to mediate the production of inflammatory cytokines. Cell Signal 2006; 18: 982-993
21. Graham RR, Cotsapas C, Davies L et al: Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet 2008; 40: 1059-1061
22. Musone SL, Taylor KE, Lu TT et al: Multiple polymorphisms in the TNFAIP3 region are independently associated with systemic lupus erythematosus. Nat Genet 2008; 40: 1062-1064
23. tenOever BR, Ng SL, Chua MA, McWhirter SM, Garcia-Sastre A, Maniatis T: Multiple functions of the IKK-related kinase IKKepsilon in interferon-mediated antiviral immunity. Science 2007; 315: 1274-1278 (Pubitemid 46364264)
24. Dieguez-Gonzalez R, Akar S, Calaza M et al: Genetic variation in the nuclear factor kappaB pathway in relation to susceptibility to rheumatoid arthritis. Ann Rheum Dis 2009; 68: 579-583
25. Corr M, Boyle DL, Ronacher L, Flores N, Firestein GS: Synergistic benefit in inflammatory arthritis by targeting I kappaB kinase epsilon and interferon beta. Ann Rheum Dis 2009; 68: 257-263
26. Harley JB, Alarcon-Riquelme ME, Criswell LA et al: Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet 2008; 40: 204-210 (Pubitemid 351171405)
27. Santer DM, Yoshio T, Minota S, Moller T, Elkon KB: Potent induction of IFN-alpha and chemokines by autoantibodies in the cerebrospinal fluid of patients with neuropsychiatric lupus. J Immunol 2009; 182: 1192-1201
28. Manuse MJ, Parks GD: TLR3-dependent upregulation of RIG-I leads to enhanced cytokine production from cells infected with the parainfluenza virus SV5. Virology 2010; 397: 231-241
29. Holcombe RF, Baethge BA, Wolf RE et al: Correlation of serum interleukin-8 and cell surface lysosome-associated membrane protein expression with clinical disease activity in systemic lupus erythematosus. Lupus 1994; 3: 97-102 (Pubitemid 24174633)
30. Trysberg E, Carlsten H, Tarkowski A: Intrathecal cytokines in systemic lupus erythematosus with central nervous system involvement. Lupus 2000; 9: 498-503
31. Lit LC, Wong CK, Tam LS, Li EK, Lam CW: Raised plasma concentration and ex vivo production of inflammatory chemokines in patients with systemic lupus erythematosus. Ann Rheum Dis 2006; 65: 209-215 (Pubitemid 43131995)
32. Rovin BH, Lu L, Zhang X: A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis. Kidney Int 2002; 62: 261-265 (Pubitemid 34754070)
33. Huang CM, Huo AP, Tsai CH, Chen CL, Tsai FJ: Lack of association of interleukin-6 and interleukin-8 gene polymorphisms in Chinese patients with systemic lupus erythematosus. J Clin Lab Anal 2006; 20: 255-259
34. Sanchez E, Sabio JM, Callejas JL et al: Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus. BMC Med Genet 2006; 7: 48
35. Boone DL, Turer EE, Lee EG et al: The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses. Nat Immunol 2004; 5: 1052-1060 (Pubitemid 41057725)
36. Jacob CO, Zhu J, Armstrong DL et al: Identification of IRAK1 as a risk gene with critical role in the pathogenesis of systemic lupus erythematosus. Proc Natl Acad Sci USA 2009; 106: 6256-6261
37. Raychaudhuri S, Thomson BP, Remmers EF et al: Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis risk. Nat Genet 2009; 41: 1313-1318
38. Thomson W, Barton A, Ke X et al: Rheumatoid arthritis association at 6q23. Nat Genet 2007; 39: 1431-1433 (Pubitemid 350191348)
39. Plenge RM, Cotsapas C, Davies L et al: Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007; 39: 1477-1482 (Pubitemid 350191346)
40. Takeuchi O, Akira S:MDA5/RIG-I and virus recognition. Curr Opin Immunol 2008; 20: 17-22.