Interferon regulatory factor 5 (IRF5) gene variants are associated with multiple sclerosis in three distinct populations

Journal of Medical Genetics

Volumn 45, Issue 6, 2008, Pages 362-369

  Kristjansdottir, G ^a   Sandling, J K ^a   Bonetti, A ^b   Roos, I M ^c   Milani, L ^a   Wang, C ^a   Gustafsdottir, S M ^d   Sigurdsson, S ^a   Lundmark, A ^a   Tienari, P J ^b   Koivisto, K ^e   Elovaara, I ^f   Pirttila T ^g   Reunanen, M ^h   Peltonen, L ⁱ   Saarela, J ⁱ   Hillert, J ^c   Olsson, T ^j   Landegren, U ^d   Alcina, A ^k   Fernandez O ^l   Leyva, L ^l   Guerrero, M ^m   Lucas, M ⁿ   Izquierdo, G ⁿ   Matesanz, F ^k   Syvanen A C ^a   more..

^a UPPSALA UNIVERSITY   (Sweden)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^d UPPSALA UNIVERSITY   (Sweden)

^e SEINÄJOKI CENTRAL HOSPITAL   (Finland)

^f TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^g KUOPIO UNIVERSITY HOSPITAL   (Finland)

^h UNIVERSITY OF OULU   (Finland)

ⁱ BIOMEDICUM HELSINKI   (Finland)

^j KAROLINSKA INSTITUTE   (Sweden)

^k INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

^l Instituto de Neurociencias Clinicas   (Spain)

^m HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

ⁿ HOSPITAL UNIVERSITARIO VIRGEN MACARENA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

INTERFERON; TRANSCRIPTION FACTOR SP1;

ALLELE; ARTICLE; AUTOIMMUNITY; CONTROLLED STUDY; GEL MOBILITY SHIFT ASSAY; GENE DELETION; GENE INSERTION; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTERFERON REGULATORY FACTOR 5 GENE; INTRON; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; PROTEIN BINDING; REGULATOR GENE; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; COHORT STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FINLAND; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INTERFERON REGULATORY FACTORS; LINKAGE DISEQUILIBRIUM; MALE; MULTIPLE SCLEROSIS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); SP1 TRANSCRIPTION FACTOR; SPAIN; SWEDEN;

EID: 45249112573     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.055012     Document Type: Article

References (49)

1. Davidson A, Diamond B. Autoimmune diseases. N Engl J Med 2001;345:340-50.
2. Kalman B, Lublin FD. The genetics of multiple sclerosis. A review. Biomed Pharmacother 1999;53:358-70.
3. Sawcer S, Ban M, Maranian M, Yeo TW, Compston A, Kirby A, Daly MJ, De Jager PL, Walsh E, Lander ES, Rioux JD, Hafler DA, Ivinson A, Rimmler J, Gregory SG, Schmidt S, Pericak-Vance MA, Akesson E, Hillert J, Datta P, Oturai A, Ryder LP, Harbo HF, Spurkland A, Myhr KM, Laaksonen M, Booth D, Heard R, Stewart G, Lincoln R, Barcellos LF, Hauser SL, Oksenberg JR, Kenealy SJ, Haines JL. A high-density screen for linkage in multiple sclerosis. Am J Hum Genet 2005;77:454-67.
4. Lincoln MR, Montpetit A, Cader MZ, Saarela J, Dyment DA, Tiislar M, Ferretti V, Tienari PJ, Sadovnick AD, Peltonen L, Ebers GC, Hudson TJ. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet 2005;37:1108-12.
5. Saarela J, Kallio SP, Chen D, Montpetit A, Jokiaho A, Choi E, Asselta R, Bronnikov D, Lincoln MR, Sadovnick AD, Tienari PJ, Koivisto K, Palotie A, Ebers GC, Hudson TJ, Peltonen L. PRKCA and multiple sclerosis: association in two independent populations. PLoS Genet 2006;2:e42.
6. Barton A, Woolmore JA, Ward D, Eyre S, Hinks A, Ollier WE, Strange RC, Fryer AA, John S, Hawkins CP, Worthington J. Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population. Brain 2004;127(Pt 8):1717-22.
7. Hafler DA, Compston A, Sawcer S, Lander ES, Daly MJ, De Jager PL, de Bakker PI, Gabriel SB, Mirel DB, Ivinson AJ, Pericak-Vance MA, Gregory SG, Rioux JD, McCauley JL, Haines JL, Barcellos LF, Cree B, Oksenberg JR, Hauser SL. Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med 2007;357:851-62.
8. Gregory SG, Schmidt S, Seth P, Oksenberg JR, Hart J, Prokop A, Caillier SJ, Ban M, Goris A, Barcellos LF, Lincoln R, McCauley JL, Sawcer SJ, Compston DA, Dubois B, Hauser SL, Garcia-Blanco MA, Pericak-Vance MA, Haines JL. Interleukin 7 receptor alpha chain (IL7R) shows allelic and functional association with multiple sclerosis. Nat Genet 2007;39:1083-91.
9. Lundmark F, Duvefelt K, Iacobaeus E, Kockum I, Wallstrom E, Khademi M, Oturai A, Ryder LP, Saarela J, Harbo HF, Celius EG, Salter H, Olsson T, Hillert J. Variation in interleukin 7 receptor alpha chain (IL7R) influences risk of multiple sclerosis. Nat Genet 2007;39:1108-13.
10. Matesanz F, Caro-Maldonado A, Fedetz M, Fernandez O, Milne RL, Guerrero M, Delgado C, Alcina A. IL2RA/CD25 polymorphisms contribute to multiple sclerosis susceptibility. J Neurol 2007;254:682-4.
11. Corporaal S, Bijl M, Kallenberg CG. Familial occurrence of autoimmune diseases and autoantibodies in a Caucasian population of patients with systemic lupus erythematosus. Clin Rheumatol 2002;21:108-13.
12. Olsson T, Jagodic M, Piehl F, Wallstrom E. Genetics of autoimmune neuroinflammation. Curr Opin Immunol 2006;18:643-9.
13. Lee YH, Rho YH, Choi SJ, Ji JD, Song GG, Nath SK, Harley JB. The PTPN22 C1858T functional polymorphism and autoimmune diseases - a meta-analysis. Rheumatology (Oxford) 2007;46:49-56.
14. Swanberg M, Lidman O, Padyukov L, Eriksson P, Akesson E, Jagodic M, Lobell A, Khademi M, Borjesson O, Lindgren CM, Lundman P, Brookes AJ, Kere J, Luthman H, Alfredsson L, Hillert J, Klareskog L, Hamsten A, Piehl F, Olsson T. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet 2005;37:486-94.
15. Wang L, Lin S, Rammohan KW, Liu Z, Liu JQ, Liu RH, Guinther N, Lima J, Zhou Q, Wang T, Zheng X, Birmingham DJ, Rovin BH, Hebert LA, Wu Y, Lynn DJ, Cooke G, Yu CY, Zheng P, Liu Y. A dinucleotide deletion in CD24 confers protection against autoimmune diseases. PLoS Genet 2007;3:e49.
16. Ronnblom LE, Alm GV, Oberg KE. Autoimmunity after alpha-interferon therapy for malignant carcinoid tumors. Ann Intern Med 1991;115:178-83.
17. Baechler EC, Batliwalla FM, Karypis G, Gaffney PM, Ortmann WA, Espe KJ, Shark KB, Grande WJ, Hughes KM, Kapur V, Gregersen PK, Behrens TW. Interferon-inducible gene expression signature in peripheral blood cells of patients with severe lupus. Proc Natl Acad Sci U S A 2003;100: 2610-5.
18. van der Pouw Kraan TC, Wijbrandts CA, van Baarsen LG, Voskuyl AE, Rustenburg F, Baggen JM, Ibrahim SM, Fero M, Dijkmans BA, Tak PP, Verweij CL. Rheumatoid arthritis subtypes identified by genomic profiling of peripheral blood cells: assignment of a type I interferon signature in a subpopulation of patients. Ann Rheum Dis 2007;66:1008-14.
19. Bave U, Nordmark G, Lovgren T, Ronnelid J, Cajander S, Eloranta ML, Alm GV, Ronnblom L. Activation of the type I interferon system in primary Sjogren's syndrome: a possible etiopathogenic mechanism. Arthritis Rheum 2005;52:1185-95.
20. van Baarsen LG, van der Pouw Kraan TC, Kragt JJ, Baggen JM, Rustenburg F, Hooper T, Meilof JF, Fero MJ, Dijkstra CD, Polman CH, Verweij CL. A subtype of multiple sclerosis defined by an activated immune defense program. Genes Immun 2006;7:522-31.
21. Taniguchi T, Ogasawara K, Takaoka A, Tanaka N. IRF family of transcription factors as regulators of host defense. Annu Rev Immunol 2001;19:623-55.
22. Mancl ME, Hu G, Sangster-Guity N, Olshalsky SL, Hoops K, Fitzgerald-Bocarsly P, Pitha PM, Pinder K, Barnes BJ. Two discrete promoters regulate the alternatively spliced human interferon regulatory factor-5 isoforms. Multiple isoforms with distinct cell type-specific expression, localization, regulation, and function. J Biol Chem 2005;280: 21078-90.
23. Barnes BJ, Moore PA, Pitha PM. Virus-specific activation of a novel interferon regulatory factor, IRF-5, results in the induction of distinct interferon alpha genes. J Biol Chem 2001;276:23382-90.
24. Takaoka A, Yanai H, Kondo S, Duncan G, Negishi H, Mizutani T, Kano S, Honda K, Ohba Y, Mak TW, Taniguchi T. Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors. Nature 2005;434:243-9.
25. Sigurdsson S, Nordmark G, Goring HH, Lindroos K, Wiman AC, Sturfelt G, Jonsen A, Rantapaa-Dahlqvist S, Moller B, Kere J, Koskenmies S, Widen E, Eloranta ML, Julkunen H, Kristjansdottir H, Steinsson K, Alm G, Ronnblom L, Syvanen AC. Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet 2005;76:528-37.
26. Sigurdsson S, Padyukov L, Kurreeman FA, Liljedahl U, Wiman AC, Alfredsson L, Toes R, Ronnelid J, Klareskog L, Huizinga TW, Alm G, Syvanen AC, Ronnblom L. Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis Rheum 2007;56:2202-10.
27. Dideberg V, Kristjansdottir G, Milani L, Libioulle C, Sigurdsson S, Louis E, Wiman AC, Vermeire S, Rutgeerts P, Belaiche J, Franchimont D, Van Gossum A, Bours V, Syvanen AC. An insertion deletion polymorphism in the Interferon Regulatory Factor 5 (IRF5) gene confers risk of inflammatory bowel diseases. Hum Mol Genet 2007;16:3008-16.
28. Poser CM, Paty DW, Scheinberg L, McDonald WI, Davis FA, Ebers GC, Johnson KP, Sibley WA, Silberberg DH, Tourtellotte WW. New diagnostic criteria for multiple sclerosis: guidelines for research protocols. Ann Neurol 1983;13:227-31.
29. Polman CH, Reingold SC, Edan G, Filippi M, Hartung HP, Kappos L, Lublin FD, Metz LM, McFarland HF, O'Connor PW, Sandberg-Wollheim M, Thompson AJ, Weinshenker BG, Wolinsky JS. Diagnostic criteria for multiple sclerosis: 2005 revisions to the "McDonald Criteria". Ann Neurol 2005;58:840-6.
30. Bell PA, Chaturvedi S, Gelfand CA, Huang CY, Kochersperger M, Kopla R, Modica F, Pohl M, Varde S, Zhao R, Zhao X, Boyce-Jacino MT, Yassen A. SNPstream UHT: ultrahigh throughput SNP genotyping for pharmacogenomics and drug discovery. Biotechniques 2002;(Suppl):70-2, 74, 76-7.
31. Gustafsdottir SM, Schlingemann J, Rada-Iglesias A, Schallmeiner E, Kamali-Moghaddam M, Wadelius C, Landegren U. In vitro analysis of DNA-protein interactions by proximity ligation. Proc Natl Acad Sci U S A 2007;104:3067-72.
32. Clayton D. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 1999;65:1170-7.
33. Fischer RA. Statistical methods for research workers, 4 ed. London: Oliver and Boyd, 1932.
34. Nyholt DR. ssSNPer: identifying statistically similar SNPs to aid interpretation of genetic association studies. Bioinformatics 2006;22:2960-1.
35. Graham RR, Kyogoku C, Sigurdsson S, Vlasova IA, Davies LR, Baechler EC, Plenge RM, Koeuth T, Ortmann WA, Hom G, Bauer JW, Gillett C, Burtt N, Cunninghame Graham DS, Onofrio R, Petri M, Gunnarsson I, Svenungsson E, Ronnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvanen AC, Bohjanen PR, Daly MJ, Behrens TW, Altshuler D. Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A 2007;104:6758-63.
36. Graham DS, Manku H, Wagner S, Reid J, Timms K, Gutin A, Lanchbury JS, Vyse TJ. Association of IRF5 in UK SLE families identifies a variant involved in polyadenylation. Hum Mol Genet 2007;16:579-91.
37. Cheung VG, Spielman RS, Ewens KG, Weber TM, Morley M, Burdick JT. Mapping determinants of human gene expression by regional and genome-wide association. Nature 2005;437:1365-9.
38. Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME. A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet 2006;38:550-5.
39. Heinemeyer T, Wingender E, Reuter I, Hermjakob H, Kel AE, Kel OV, Ignatieva EV, Ananko EA, Podkolodnaya OA, Kolpakov FA, Podkolodny NL, Kolchanov NA. Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL. Nucleic Acids Res 1998;26:362-7.
40. Gullberg M, Gustafsdottir SM, Schallmeiner E, Jarvius J, Bjarnegard M, Betsholtz C, Landegren U, Fredriksson S. Cytokine detection by antibody-based proximity ligation. Proc Natl Acad Sci U S A 2004;101:8420-4.
41. Sigurdsson S, Goring HH, Kristjansdottir G, Milani L, Nordmark G, Sandling JK, Eloranta ML, Feng D, Sangster-Guity N, Gunnarsson I, Svenungsson E, Sturfelt G, Jonsen A, Truedsson L, Barnes BJ, Alm G, Ronnblom L, Syvanen AC. Comprehensive evaluation of the genetic variants of interferon regulatory factor 5 (IRF5) reveals a novel 5bp length polymorphism as strong risk factor for systemic lupus erythematosus. Hum Mol Genet 2008;17:872-81.
42. Sharma S, Grandvaux N, Mamane Y, Genin P, Azimi N, Waldmann T, Hiscott J. Regulation of IFN regulatory factor 4 expression in human T cell leukemia virus-I-transformed T cells. J Immunol 2002;169:3120-30.
43. Book McAlexander M, Yu-Lee LY. Sp1 is required for prolactin activation of the interferon regulatory factor-1 gene. Mol Cell Endocrinol 2001;184:135-41.
44. Plenge RM, Cotsapas C, Davies L, Price AL, de Bakker PI, Maller J, Pe'er I, Burtt NP, Blumenstiel B, DeFelice M, Parkin M, Barry R, Winslow W, Healy C, Graham RR, Neale BM, Izmailova E, Roubenoff R, Parker AN, Glass R, Karlson EW, Maher N, Hafler DA, Lee DM, Seldin MF, Remmers EF, Lee AT, Padyukov L, Alfredsson L, Coblyn J, Weinblatt ME, Gabriel SB, Purcell S, Klareskog L, Gregersen PK, Shadick NA, Daly MJ, Altshuler D. Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet 2007;39:1477-82.
45. Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 2007;447:661-78.
46. Ferreiro-Neira I, Calaza M, Alonso-Perez E, Marchini M, Scorza R, Sebastiani GD, Blanco FJ, Rego I, Pullmann R Jr, Pullmann R, Kallenberg CG, Bijl M, Skopouli FN, Mavromati M, Migliaresi S, Barizzone N, Ruzickova S, Dostal C, Schmidt RE, Witte T, Papasteriades C, Kappou-Rigatou I, Endreffy E, Kovacs A, Ordi-Ros J, Balada E, Carreira P, Gomez-Reino JJ, Gonzalez A. Opposed independent effects and epistasis in the complex association of IRF5 to SLE. Genes Immun 2007;8:429-38.
47. Spielman RS, McGinnis RE, Ewens WJ. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 1993;52:506-16.
48. Mitchell AA, Cutler DJ, Chakravarti A. Undetected genotyping errors cause apparent overtransmission of common alleles in the transmission/disequilibrium test. Am J Hum Genet 2003;72:598-610.
49. Teige I, Treschow A, Teige A, Mattsson R, Navikas V, Leanderson T, Holmdahl R, Issazadeh-Navikas S. IFN-beta gene deletion leads to augmented and chronic demyelinating experimental autoimmune encephalomyelitis. J Immunol 2003;170:4776-84.