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Arthritis Research & Therapy
Erschienen in: Arthritis Research & Therapy 5/2009

01.10.2009 | Review

Genetics of rheumatic disease

verfasst von: Alex Clarke, Timothy J Vyse

Erschienen in: Arthritis Research & Therapy | Ausgabe 5/2009

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Abstract

Many of the chronic inflammatory and degenerative disorders that present to clinical rheumatologists have a complex genetic aetiology. Over the past decade a dramatic improvement in technology and methodology has accelerated the pace of gene discovery in complex disorders in an exponential fashion. In this review, we focus on rheumatoid arthritis, systemic lupus erythematosus and ankylosing spondylitis and describe some of the recently described genes that underlie these conditions and the extent to which they overlap. The next decade will witness a full account of the main disease susceptibility genes in these diseases and progress in establishing the molecular basis by which genetic variation contributes to pathogenesis.
Literatur
1.
2.
International HapMap Consortium, Frazer KA, Ballinger DG, Cox DR, Hinds DA, Stuve LL, Gibbs RA, Belmont JW, Boudreau A, Hardenbol P, Leal SM, Pasternak S, Wheeler DA, Willis TD, Yu F, Yang H, Zeng C, Gao Y, Hu H, Hu W, Li C, Lin W, Liu S, Pan H, Tang X, Wang J, Wang W, Yu J, Zhang B, Zhang Q, et al: A second generation human haplotype map of over 3.1 million SNPs. Nature. 2007, 449: 851-861. 10.1038/nature06258.CrossRef
3.
Risch N, Merikangas K: The future of genetic studies of complex human diseases. Science. 1996, 273: 1516-1517. 10.1126/science.273.5281.1516.CrossRefPubMed
4.
Rioux JD, Xavier RJ, Taylor KD, Silverberg MS, Goyette P, Huett A, Green T, Kuballa P, Barmada MM, Datta LW, Shugart YY, Griffiths AM, Targan SR, Ippoliti AF, Bernard EJ, Mei L, Nicolae DL, Regueiro M, Schumm LP, Steinhart AH, Rotter JI, Duerr RH, Cho JH, Daly MJ, Brant SR: Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007, 39: 596-604. 10.1038/ng2032.PubMedCentralCrossRefPubMed
5.
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: 661-678. 10.1038/nature05911.CrossRef
6.
Sebat J, Lakshmi B, Troge J, Alexander J, Young J, Lundin P, Månér S, Massa H, Walker M, Chi M, Navin N, Lucito R, Healy J, Hicks J, Ye K, Reiner A, Gilliam TC, Trask B, Patterson N, Zetterberg A, Wigler M: Large-scale copy number polymorphism in the human genome. Science. 2004, 305: 525-528. 10.1126/science.1098918.CrossRefPubMed
7.
Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, et al: Global variation in copy number in the human genome. Nature. 2006, 444: 444-454. 10.1038/nature05329.PubMedCentralCrossRefPubMed
8.
Stranger BE, Forrest MS, Dunning M, Ingle CE, Beazley C, Thorne N, Redon R, Bird CP, de Grassi A, Lee C, Tyler-Smith C, Carter N, Scherer SW, Tavaré S, Deloukas P, Hurles ME, Dermitzakis ET: Relative impact of nucleotide and copy number variation on gene expression phenotypes. Science. 2007, 315: 848-853. 10.1126/science.1136678.PubMedCentralCrossRefPubMed
9.
Aitman TJ, Dong R, Vyse TJ, Norsworthy PJ, Johnson MD, Smith J, Mangion J, Roberton-Lowe C, Marshall AJ, Petretto E, Hodges MD, Bhangal G, Patel SG, Sheehan-Rooney K, Duda M, Cook PR, Evans DJ, Domin J, Flint J, Boyle JJ, Pusey CD, Cook HT: Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans. Nature. 2006, 439: 851-855. 10.1038/nature04489.CrossRefPubMed
10.
Hollox EJ, Huffmeier U, Zeeuwen PL, Palla R, Lascorz J, Rodijk-Olthuis D, Kerkhof van de PC, Traupe H, de Jongh G, den Heijer M, Reis A, Armour JA, Schalkwijk J: Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet. 2008, 40: 23-25. 10.1038/ng.2007.48.PubMedCentralCrossRefPubMed
11.
Yang Y, Chung EK, Wu YL, Savelli SL, Nagaraja HN, Zhou B, Hebert M, Jones KN, Shu Y, Kitzmiller K, Blanchong CA, McBride KL, Higgins GC, Rennebohm RM, Rice RR, Hackshaw KV, Roubey RA, Grossman JM, Tsao BP, Birmingham DJ, Rovin BH, Hebert LA, Yu CY: Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans. Am J Hum Genet. 2007, 80: 1037-1054. 10.1086/518257.PubMedCentralCrossRefPubMed
12.
Felsenfeld G, Groudine M: Controlling the double helix. Nature. 2003, 421: 448-453. 10.1038/nature01411.CrossRefPubMed
13.
Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, Lush MJ, Povey S, Talbot CC, Wright MW, Wain HM, Trowsdale J, Ziegler A, Beck S: Gene map of the extended human MHC. Nat Rev Genet. 2004, 5: 889-899. 10.1038/nrg1489.CrossRefPubMed
14.
Fernando MM, Stevens CR, Walsh EC, De Jager PL, Goyette P, Plenge RM, Vyse TJ, Rioux JD: Defining the role of the MHC in autoimmunity: a review and pooled analysis. PLoS Genet. 2008, 4: e1000024-10.1371/journal.pgen.1000024.PubMedCentralCrossRefPubMed
15.
Raychaudhuri S, Remmers EF, Lee AT, Hackett R, Guiducci C, Burtt NP, Gianniny L, Korman BD, Padyukov L, Kurreeman FA, Chang M, Catanese JJ, Ding B, Wong S, Helmvan Mil van der AH, Neale BM, Coblyn J, Cui J, Tak PP, Wolbink GJ, Crusius JB, Horst-Bruinsma van der IE, Criswell LA, Amos CI, Seldin MF, Kastner DL, Ardlie KG, Alfredsson L, Costenbader KH, Altshuler D, et al: Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet. 2008, 40: 1216-1223. 10.1038/ng.233.PubMedCentralCrossRefPubMed
16.
Ding B, Padyukov L, Lundström E, Seielstad M, Plenge RM, Oksenberg JR, Gregersen PK, Alfredsson L, Klareskog L: Different patterns of associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in the extended major histocompatibility complex region. Arthritis Rheum. 2009, 60: 30-38. 10.1002/art.24135.PubMedCentralCrossRefPubMed
17.
International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley JB, Alarcón-Riquelme ME, Criswell LA, Jacob CO, Kimberly RP, Moser KL, Tsao BP, Vyse TJ, Lange-feld CD, Nath SK, Guthridge JM, Cobb BL, Mirel DB, Marion MC, Williams AH, Divers J, Wang W, Frank SG, Namjou B, Gabriel SB, Lee AT, Gregersen PK, Behrens TW, Taylor KE, Fernando M, Zidovetzki R, Gaffney PM, Edberg JC, Rioux JD, 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. 10.1038/ng.81.CrossRef
18.
Lewis MJ, Botto M: Complement deficiencies in humans and animals: links to autoimmunity. Autoimmunity. 2006, 39: 367-378. 10.1080/08916930600739233.CrossRefPubMed
19.
Fernando MM, Stevens CR, Sabeti PC, Walsh EC, McWhinnie AJ, Shah A, Green T, Rioux JD, Vyse TJ: Identification of two independent risk factors for lupus within the MHC in United Kingdom families. PLoS Genet. 2007, 3: e192-10.1371/journal.pgen.0030192.PubMedCentralCrossRefPubMed
20.
Harley IT, Kaufman KM, Langefeld CD, Harley JB, Kelly JA: Genetic susceptibility to SLE: new insights from fine mapping and genome-wide association studies. Nat Rev Genet. 2009, 10: 285-290. 10.1038/nrg2571.PubMedCentralCrossRefPubMed
21.
Sekine H, Ferreira RC, Pan-Hammarström Q, Graham RR, Ziemba B, de Vries SS, Liu J, Hippen K, Koeuth T, Ortmann W, Iwahori A, Elliott MK, Offer S, Skon C, Du L, Novitzke J, Lee AT, Zhao N, Tompkins JD, Altshuler D, Gregersen PK, Cunningham-Rundles C, Harris RS, Her C, Nelson DL, Hammarström L, Gilkeson GS, Behrens TW: Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci USA. 2007, 104: 7193-7198. 10.1073/pnas.0700815104.PubMedCentralCrossRefPubMed
22.
Brown MA, Pile KD, Kennedy LG, Calin A, Darke C, Bell J, Wordsworth BP, Cornélis F: HLA class I associations of ankylosing spondylitis in the white population in the United Kingdom. Ann Rheum Dis. 1996, 55: 268-270. 10.1136/ard.55.4.268.PubMedCentralCrossRefPubMed
23.
Brown MA, Kennedy LG, Darke C, Gibson K, Pile KD, Shatford JL, Taylor A, Calin A, Wordsworth BP: The effect of HLA-DR genes on susceptibility to and severity of ankylosing spondylitis. Arthritis Rheum. 1998, 41: 460-465. 10.1002/1529-0131(199803)41:3<460::AID-ART12>3.0.CO;2-X.CrossRefPubMed
24.
Wellcome Trust Case Control Consortium; Australo-Anglo-American Spondylitis Consortium (TASC), Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A, Kwiatkowski DP, McCarthy MI, Ouwehand WH, Samani NJ, Todd JA, Donnelly P, Barrett JC, Davison D, Easton D, Evans DM, Leung HT, Marchini JL, Morris AP, Spencer CC, Tobin MD, Attwood AP, Boorman JP, Cant B, Everson U, Hussey JM, Jolley JD, Knight AS, et al: Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007, 39: 1329-1337. 10.1038/ng.2007.17.CrossRef
25.
Hammer GE, Gonzalez F, James E, Nolla H, Shastri N: In the absence of aminopeptidase ERAAP, MHC class I molecules present many unstable and highly immunogenic peptides. Nat Immunol. 2007, 8: 101-108. 10.1038/ni1409.CrossRefPubMed
26.
Cui X, Rouhani FN, Hawari F, Levine SJ: Shedding of the type II IL-1 decoy receptor requires a multifunctional aminopeptidase, aminopeptidase regulator of TNF receptor type 1 shedding. J Immunol. 2003, 171: 6814-6819.CrossRefPubMed
27.
Cui X, Rouhani FN, Hawari F, Levine SJ: An aminopeptidase, ARTS-1, is required for interleukin-6 receptor shedding. J Biol Chem. 2003, 278: 28677-28685. 10.1074/jbc.M300456200.CrossRefPubMed
28.
Cui X, Hawari F, Alsaaty S, Lawrence M, Combs CA, Geng W, Rouhani FN, Miskinis D, Levine SJ: Identification of ARTS-1 as a novel TNFR1-binding protein that promotes TNFR1 ectodomain shedding. J Clin Invest. 2002, 110: 515-526.PubMedCentralCrossRefPubMed
29.
Ronnblom L, Eloranta ML, Alm GV: The type I interferon system in systemic lupus erythematosus. Arthritis Rheum. 2006, 54: 408-420. 10.1002/art.21571.CrossRefPubMed
30.
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: 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. 10.1086/428480.PubMedCentralCrossRefPubMed
31.
Sigurdsson S, Padyukov L, Kurreeman FA, Liljedahl U, Wiman AC, Alfredsson L, Toes R, Rönnelid J, Klareskog L, Huizinga TW, Alm G, Syvänen AC, Rönnblom L: Association of a haplotype in the promoter region of the interferon regulatory factor 5 gene with rheumatoid arthritis. Arthritis Rheum. 2007, 56: 2202-2210. 10.1002/art.22704.CrossRefPubMed
32.
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, Rönnblom L, Nordmark G, Gregersen PK, Moser K, Gaffney PM, Criswell LA, Vyse TJ, Syvänen 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 USA. 2007, 104: 6758-6763. 10.1073/pnas.0701266104.PubMedCentralCrossRefPubMed
33.
Hom G, Graham RR, Modrek B, Taylor KE, Ortmann W, Garnier S, Lee AT, Chung SA, Ferreira RC, Pant PV, Ballinger DG, Kosoy R, Demirci FY, Kamboh MI, Kao AH, Tian C, Gunnarsson I, Bengtsson AA, Rantapää-Dahlqvist S, Petri M, Manzi S, Seldin MF, Rönnblom L, Syvänen AC, Criswell LA, Gregersen PK, Behrens TW: Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. N Engl J Med. 2008, 358: 900-909. 10.1056/NEJMoa0707865.CrossRefPubMed
34.
Cunninghame 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: 579-591. 10.1093/hmg/ddl469.CrossRefPubMed
35.
Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, González Escribano MF, Argentine and Spanish Collaborative Groups, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martín J, Altshuler D, Behrens TW, Alarcón-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: 550-555. 10.1038/ng1782.CrossRefPubMed
36.
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: 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. Hum Mol Genet. 2008, 17: 872-881. 10.1093/hmg/ddm359.CrossRefPubMed
37.
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: 243-249. 10.1038/nature03308.CrossRefPubMed
38.
Dieguez-Gonzalez R, Calaza M, Perez-Pampin E, de la Serna AR, Fernandez-Gutierrez B, Castañeda S, Largo R, Joven B, Narvaez J, Navarro F, Marenco JL, Vicario JL, Blanco FJ, Fernandez-Lopez JC, Caliz R, Collado-Escobar MD, Carreño L, Lopez-Longo J, Cañete JD, Gomez-Reino JJ, Gonzalez A: Association of interferon regulatory factor 5 haplotypes, similar to that found in systemic lupus erythematosus, in a large subgroup of patients with rheumatoid arthritis. Arthritis Rheum. 2008, 58: 1264-1274. 10.1002/art.23426.CrossRefPubMed
39.
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, et al: Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet. 2007, 39: 1477-1482. 10.1038/ng.2007.27.PubMedCentralCrossRefPubMed
40.
Plenge RM, Seielstad M, Padyukov L, Lee AT, Remmers EF, Ding B, Liew A, Khalili H, Chandrasekaran A, Davies LR, Li W, Tan AK, Bonnard C, Ong RT, Thalamuthu A, Pettersson S, Liu C, Tian C, Chen WV, Carulli JP, Beckman EM, Altshuler D, Alfredsson L, Criswell LA, Amos CI, Seldin MF, Kastner DL, Klareskog L, Gregersen PK: TRAF1-C5 as a risk locus for rheumatoid arthritis - a genomewide study. N Engl J Med. 2007, 357: 1199-1209. 10.1056/NEJMoa073491.PubMedCentralCrossRefPubMed
41.
Komander D, Barford D: Structure of the A20 OTU domain and mechanistic insights into deubiquitination. Biochem J. 2008, 409: 77-85. 10.1042/BJ20071399.CrossRefPubMed
42.
Sun SC: Deubiquitylation and regulation of the immune response. Nat Rev Immunol. 2008, 8: 501-511. 10.1038/nri2337.CrossRefPubMed
43.
Lee EG, Boone DL, Chai S, Libby SL, Chien M, Lodolce JP, Ma A: Failure to regulate TNF-induced NF-kappaB and cell death responses in A20-deficient mice. Science. 2000, 289: 2350-2354. 10.1126/science.289.5488.2350.PubMedCentralCrossRefPubMed
44.
Graham RR, Cotsapas C, Davies L, Hackett R, Lessard CJ, Leon JM, Burtt NP, Guiducci C, Parkin M, Gates C, Plenge RM, Behrens TW, Wither JE, Rioux JD, Fortin PR, Graham DC, Wong AK, Vyse TJ, Daly MJ, Altshuler D, Moser KL, Gaffney PM: Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet. 2008, 40: 1059-1061. 10.1038/ng.200.PubMedCentralCrossRefPubMed
45.
Bates JS, Lessard CJ, Leon JM, Nguyen T, Battiest LJ, Rodgers J, Kaufman KM, James JA, Gilkeson GS, Kelly JA, Humphrey MB, Harley JB, Gray-McGuire C, Moser KL, Gaffney PM: Meta-analysis and imputation identifies a 109 kb risk haplotype spanning TNFAIP3 associated with lupus nephritis and hematologic manifestations. Genes Immun. 2009, 10: 470-477. 10.1038/gene.2009.31.PubMedCentralCrossRefPubMed
46.
Kurreeman FA, Padyukov L, Marques RB, Schrodi SJ, Seddighzadeh M, Stoeken-Rijsbergen G, Helmvan Mil van der AH, Allaart CF, Verduyn W, Houwing-Duistermaat J, Alfredsson L, Begovich AB, Klareskog L, Huizinga TW, Toes RE: A candidate gene approach identifies the TRAF1/C5 region as a risk factor for rheumatoid arthritis. PLoS Med. 2007, 4: e278-10.1371/journal.pmed.0040278.PubMedCentralCrossRefPubMed
47.
Kurreeman FA, Rocha D, Houwing-Duistermaat J, Vrijmoet S, Teixeira VH, Migliorini P, Balsa A, Westhovens R, Barrera P, Alves H, Vaz C, Fernandes M, Pascual-Salcedo D, Michou L, Bombardieri S, Radstake T, van Riel P, Putte van de L, Lopes-Vaz A, Prum B, Bardin T, Gut I, Cornelis F, Huizinga TW, Petit-Teixeira E, Toes RE, European Consortium on Rheumatoid Arthritis Families: Replication of the tumor necrosis factor receptor-associated factor 1/complement component 5 region as a susceptibility locus for rheumatoid arthritis in a European family-based study. Arthritis Rheum. 2008, 58: 2670-2674. 10.1002/art.23793.CrossRefPubMed
48.
Barton A, Thomson W, Ke X, Eyre S, Hinks A, Bowes J, Gibbons L, Plant D, Wellcome Trust Case Control Consortium, Wilson AG, Marinou I, Morgan A, Emery P, YEAR consortium, Steer S, Hocking L, Reid DM, Wordsworth P, Harrison P, Worthington J: Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility. Hum Mol Genet. 2008, 17: 2274-2279. 10.1093/hmg/ddn128.PubMedCentralCrossRefPubMed
49.
Carpentier I, Beyaert R: TRAF1 is a TNF inducible regulator of NF-kappaB activation. FEBS Lett. 1999, 460: 246-250. 10.1016/S0014-5793(99)01356-3.CrossRefPubMed
50.
Tsitsikov EN, Laouini D, Dunn IF, Sannikova TY, Davidson L, Alt FW, Geha RS: TRAF1 is a negative regulator of TNF signaling. enhanced TNF signaling in TRAF1-deficient mice. Immunity. 2001, 15: 647-657. 10.1016/S1074-7613(01)00207-2.CrossRefPubMed
51.
Wang Y, Rollins SA, Madri JA, Matis LA: Anti-C5 monoclonal antibody therapy prevents collagen-induced arthritis and ameliorates established disease. Proc Natl Acad Sci USA. 1995, 92: 8955-8959. 10.1073/pnas.92.19.8955.PubMedCentralCrossRefPubMed
52.
Wang Y, Kristan J, Hao L, Lenkoski CS, Shen Y, Matis LA: A role for complement in antibody-mediated inflammation: C5-deficient DBA/1 mice are resistant to collagen-induced arthritis. J Immunol. 2000, 164: 4340-4347.CrossRefPubMed
53.
Panoulas VF, Smith JP, Nightingale P, Kitas GD: Association of the TRAF1/C5 locus with increased mortality, particularly from malignancy or sepsis, in patients with rheumatoid arthritis. Arthritis Rheum. 2009, 60: 39-46. 10.1002/art.24176.CrossRefPubMed
54.
Larson RS, Springer TA: Structure and function of leukocyte integrins. Immunol Rev. 1990, 114: 181-217. 10.1111/j.1600-065X.1990.tb00565.x.CrossRefPubMed
55.
Sohn JH, Bora PS, Suk HJ, Molina H, Kaplan HJ, Bora NS: Tolerance is dependent on complement C3 fragment iC3b binding to antigen-presenting cells. Nat Med. 2003, 9: 206-212. 10.1038/nm814.PubMedCentralCrossRefPubMed
56.
Ehirchiou D, Xiong Y, Xu G, Chen W, Shi Y, Zhang L: CD11b facilitates the development of peripheral tolerance by suppressing Th17 differentiation. J Exp Med. 2007, 204: 1519-1524. 10.1084/jem.20062292.PubMedCentralCrossRefPubMed
57.
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK: Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet. 2009, 18: 1171-1180. 10.1093/hmg/ddp007.PubMedCentralCrossRefPubMed
58.
Nath SK, Han S, Kim-Howard X, Kelly JA, Viswanathan P, Gilkeson GS, Chen W, Zhu C, McEver RP, Kimberly RP, Alarcón-Riquelme ME, Vyse TJ, Li QZ, Wakeland EK, Merrill JT, James JA, Kaufman KM, Guthridge JM, Harley JB: A nonsynonymous functional variant in integrin-alpha(M) (encoded by ITGAM) is associated with systemic lupus erythematosus. Nat Genet. 2008, 40: 152-154. 10.1038/ng.71.CrossRefPubMed
59.
Han S, Kim-Howard X, Deshmukh H, Kamatani Y, Viswanathan P, Guthridge JM, Thomas K, Kaufman KM, Ojwang J, Rojas-Villarraga A, Baca V, Orozco L, Rhodes B, Choi CB, Gregersen PK, Merrill JT, James JA, Gaffney PM, Moser KL, Jacob CO, Kimberly RP, Harley JB, Bae SC, Anaya JM, Alarcón-Riquelme ME, Matsuda K, Vyse TJ, Nath SK: Evaluation of imputation-based association in and around the integrin-alpha-M (ITGAM) gene and replication of robust association between a non-synonymous functional variant within ITGAM and systemic lupus erythematosus (SLE). Hum Mol Genet. 2009, 18: 1171-180. 10.1093/hmg/ddp007.PubMedCentralCrossRefPubMed
60.
Willcocks LC, Lyons PA, Clatworthy MR, Robinson JI, Yang W, Newland SA, Plagnol V, McGovern NN, Condliffe AM, Chilvers ER, Adu D, Jolly EC, Watts R, Lau YL, Morgan AW, Nash G, Smith KG: Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake. J Exp Med. 2008, 205: 1573-1582. 10.1084/jem.20072413.PubMedCentralCrossRefPubMed
61.
Fanciulli M, Norsworthy PJ, Petretto E, Dong R, Harper L, Kamesh L, Heward JM, Gough SC, de Smith A, Blakemore AI, Froguel P, Owen CJ, Pearce SH, Teixeira L, Guillevin L, Graham DS, Pusey CD, Cook HT, Vyse TJ, Aitman TJ: FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity. Nat Genet. 2007, 39: 721-723. 10.1038/ng2046.PubMedCentralCrossRefPubMed
62.
Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK: A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet. 2004, 75: 330-337. 10.1086/422827.PubMedCentralCrossRefPubMed
63.
Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Etzel C, Damle A, Xiao X, Chen D, Lum RF, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL, Clegg DO, Pope R, Schroeder HW, Bridges SL, Pisetsky DS, Ward R, Kastner DL, Wilder RL, Pincus T, Callahan LF, Flemming D, Wener MH, Gregersen PK, North American Rheumatoid Arthritis Consortium: Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum. 2003, 48: 906-916. 10.1002/art.10989.CrossRefPubMed
64.
Lee HS, Korman BD, Le JM, Kastner DL, Remmers EF, Gregersen PK, Bae SC: Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations. Arthritis Rheum. 2009, 60: 364-371. 10.1002/art.24245.PubMedCentralCrossRefPubMed
65.
Ikari K, Momohara S, Inoue E, Tomatsu T, Hara M, Yamanaka H, Kamatani N: Haplotype analysis revealed no association between the PTPN22 gene and RA in a Japanese population. Rheumatology (Oxford). 2006, 45: 1345-1348. 10.1093/rheumatology/kel169.CrossRef
66.
Cloutier JF, Veillette A: Cooperative inhibition of T-cell antigen receptor signaling by a complex between a kinase and a phosphatase. J Exp Med. 1999, 189: 111-121. 10.1084/jem.189.1.111.PubMedCentralCrossRefPubMed
67.
Gjörloff-Wingren A, Saxena M, Williams S, Hammi D, Mustelin T: Characterization of TCR-induced receptor-proximal signaling events negatively regulated by the protein tyrosine phosphatase PEP. Eur J Immunol. 1999, 29: 3845-3854. 10.1002/(SICI)1521-4141(199912)29:12<3845::AID-IMMU3845>3.0.CO;2-U.CrossRefPubMed
68.
Vang T, Miletic AV, Arimura Y, Tautz L, Rickert RC, Mustelin T: Protein tyrosine phosphatases in autoimmunity. Annu Rev Immunol. 2008, 26: 29-55. 10.1146/annurev.immunol.26.021607.090418.CrossRefPubMed
69.
Orrú V, Tsai SJ, Rueda B, Fiorillo E, Stanford SM, Dasgupta J, Hartiala J, Zhao L, Ortego-Centeno N, D'Alfonso S, Italian Collaborative Group, Arnett FC, Wu H, Gonzalez-Gay MA, Tsao BP, Pons-Estel B, Alarcon-Riquelme ME, He Y, Zhang ZY, Allayee H, Chen XS, Martin J, Bottini N: A loss-of-function variant of PTPN22 is associated with reduced risk of systemic lupus erythematosus. Hum Mol Genet. 2009, 18: 569-579. 10.1093/hmg/ddn363.PubMedCentralCrossRefPubMed
70.
Orozco G, García-Porrúa C, López-Nevot MA, Raya E, González-Gay MA, Martín J: Lack of association between ankylosing spondylitis and a functional polymorphism of PTPN22 proposed as a general susceptibility marker for autoimmunity. Ann Rheum Dis. 2006, 65: 687-688. 10.1136/ard.2005.046094.PubMedCentralCrossRefPubMed
71.
Watford WT, Hissong BD, Bream JH, Kanno Y, Muul L, O'Shea JJ: Signaling by IL-12 and IL-23 and the immunoregulatory roles of STAT4. Immunol Rev. 2004, 202: 139-156. 10.1111/j.0105-2896.2004.00211.x.CrossRefPubMed
72.
Mathur AN, Chang HC, Zisoulis DG, Stritesky GL, Yu Q, O'Malley JT, Kapur R, Levy DE, Kansas GS, Kaplan MH: Stat3 and Stat4 direct development of IL-17-secreting Th cells. J Immunol. 2007, 178: 4901-4907.CrossRefPubMed
73.
Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PI, Le JM, Lee HS, Batliwalla F, Li W, Masters SL, Booty MG, Carulli JP, Padyukov L, Alfredsson L, Klareskog L, Chen WV, Amos CI, Criswell LA, Seldin MF, Kastner DL, Gregersen PK: STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med. 2007, 357: 977-986. 10.1056/NEJMoa073003.PubMedCentralCrossRefPubMed
74.
Namjou B, Sestak AL, Armstrong DL, Zidovetzki R, Kelly JA, Jacob N, Ciobanu V, Kaufman KM, Ojwang JO, Ziegler J, Quismorio FP, Reiff A, Myones BL, Guthridge JM, Nath SK, Bruner GR, Mehrian-Shai R, Silverman E, Klein-Gitelman M, McCurdy D, Wagner-Weiner L, Nocton JJ, Putterman C, Bae SC, Kim YJ, Petri M, Reveille JD, Vyse TJ, Gilkeson GS, Kamen DL, et al: High-density genotyping of STAT4 reveals multiple haplotypic associations with systemic lupus erythematosus in different racial groups. Arthritis Rheum. 2009, 60: 1085-1095. 10.1002/art.24387.PubMedCentralCrossRefPubMed
75.
Kastelein RA, Hunter CA, Cua DJ: Discovery and biology of IL-23 and IL-27: related but functionally distinct regulators of inflammation. Annu Rev Immunol. 2007, 25: 221-242. 10.1146/annurev.immunol.22.012703.104758.CrossRefPubMed
76.
Nair RP, Duffin KC, Helms C, Ding J, Stuart PE, Goldgar D, Gudjonsson JE, Li Y, Tejasvi T, Feng BJ, Ruether A, Schreiber S, Weichenthal M, Gladman D, Rahman P, Schrodi SJ, Prahalad S, Guthery SL, Fischer J, Liao W, Kwok PY, Menter A, Lathrop GM, Wise CA, Begovich AB, Voorhees JJ, Elder JT, Krueger GG, Bowcock AM, Abecasis GR, Collaborative Association Study of Psoriasis: Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009, 41: 199-204. 10.1038/ng.311.PubMedCentralCrossRefPubMed
77.
Silverberg MS, Cho JH, Rioux JD, McGovern DP, Wu J, Annese V, Achkar JP, Goyette P, Scott R, Xu W, Barmada MM, Klei L, Daly MJ, Abraham C, Bayless TM, Bossa F, Griffiths AM, Ippoliti AF, Lahaie RG, Latiano A, Paré P, Proctor DD, Regueiro MD, Steinhart AH, Targan SR, Schumm LP, Kistner EO, Lee AT, Gregersen PK, Rotter JI, et al: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study. Nat Genet. 2009, 41: 216-220. 10.1038/ng.275.PubMedCentralCrossRefPubMed
78.
Yokoyama K, Su Ih IH, Tezuka T, Yasuda T, Mikoshiba K, Tarakhovsky A, Yamamoto T: BANK regulates BCR-induced calcium mobilization by promoting tyrosine phosphorylation of IP(3) receptor. EMBO J. 2002, 21: 83-92. 10.1093/emboj/21.1.83.PubMedCentralCrossRefPubMed
79.
Kozyrev SV, Abelson AK, Wojcik J, Zaghlool A, Linga Reddy MV, Sanchez E, Gunnarsson I, Svenungsson E, Sturfelt G, Jönsen A, Truedsson L, Pons-Estel BA, Witte T, D'Alfonso S, Barizzone N, Danieli MG, Gutierrez C, Suarez A, Junker P, Laustrup H, González-Escribano MF, Martin J, Abderrahim H, Alarcón-Riquelme ME: Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus. Nat Genet. 2008, 40: 211-216. 10.1038/ng.79.CrossRefPubMed
80.
Kurosaki T, Hikida M: Tyrosine kinases and their substrates in B lymphocytes. Immunol Rev. 2009, 228: 132-148. 10.1111/j.1600-065X.2008.00748.x.CrossRefPubMed
81.
Hibbs ML, Tarlinton DM, Armes J, Grail D, Hodgson G, Maglitto R, Stacker SA, Dunn AR: Multiple defects in the immune system of Lyn-deficient mice, culminating in autoimmune disease. Cell. 1995, 83: 301-311. 10.1016/0092-8674(95)90171-X.CrossRefPubMed
82.
Lu R, Vidal GS, Kelly JA, Delgado-Vega AM, Howard XK, Macwana SR, Dominguez N, Klein W, Burrell C, Harley IT, Kaufman KM, Bruner GR, Moser KL, Gaffney PM, Gilkeson GS, Wakeland EK, Li QZ, Langefeld CD, Marion MC, Divers J, Alarcón GS, Brown EE, Kimberly RP, Edberg JC, Ramsey-Goldman R, Reveille JD, McGwin G, Vilá LM, Petri MA, Bae SC, et al: Genetic associations of LYN with systemic lupus erythematosus. Genes Immun. 2009, 10: 397-403. 10.1038/gene.2009.19.PubMedCentralCrossRefPubMed
83.
84.
Cunninghame Graham DS, Graham RR, Manku H, Wong AK, Whittaker JC, Gaffney PM, Moser KL, Rioux JD, Altshuler D, Behrens TW, Vyse TJ: Polymorphism at the TNF superfamily gene TNFSF4 confers susceptibility to systemic lupus erythematosus. Nat Genet. 2008, 40: 83-89. 10.1038/ng.2007.47.PubMedCentralCrossRefPubMed
85.
Manku H, Graham DS, Vyse TJ: Association of the co-stimulator OX40L with systemic lupus erythematosus. J Mol Med. 2009, 87: 229-234. 10.1007/s00109-008-0431-2.CrossRefPubMed
86.
Fillatreau S, Gray D, Anderton SM: Not always the bad guys: B cells as regulators of autoimmune pathology. Nat Rev Immunol. 2008, 8: 391-397. 10.1038/nri2315.CrossRefPubMed
87.
Suzuki A, Yamada R, Chang X, Tokuhiro S, Sawada T, Suzuki M, Nagasaki M, Nakayama-Hamada M, Kawaida R, Ono M, Ohtsuki M, Furukawa H, Yoshino S, Yukioka M, Tohma S, Matsubara T, Wakitani S, Teshima R, Nishioka Y, Sekine A, Iida A, Takahashi A, Tsunoda T, Nakamura Y, Yamamoto K: Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet. 2003, 34: 395-402. 10.1038/ng1206.CrossRefPubMed
88.
Kang N, Clarke AJ, Nicholson IA, Chard RB: Circulatory arrest for repair of postcoarctation site aneurysm. Ann Thorac Surg. 2004, 77: 2029-2033. 10.1016/j.athoracsur.2003.11.007.CrossRefPubMed
89.
Gandjbakhch F, Fajardy I, Ferré B, Dubucquoi S, Flipo RM, Roger N, Solau-Gervais E: A functional haplotype of PADI4 gene in rheumatoid arthritis: positive correlation in a French population. J Rheumatol. 2009, 36: 881-886. 10.3899/jrheum.080398.CrossRefPubMed
90.
Martinez A, Valdivia A, Pascual-Salcedo D, Lamas JR, Fernández-Arquero M, Balsa A, Fernández-Gutiérrez B, de la Concha EG, Urcelay E: PADI4 polymorphisms are not associated with rheumatoid arthritis in the Spanish population. Rheumatology (Oxford). 2005, 44: 1263-1266. 10.1093/rheumatology/kei008.CrossRef
91.
Caponi L, Petit-Teixeira E, Sebbag M, Bongiorni F, Moscato S, Pratesi F, Pierlot C, Osorio J, Chapuy-Regaud S, Guerrin M, Cornelis F, Serre G, Migliorini P, ECRAF: A family based study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population. Ann Rheum Dis. 2005, 64: 587-593. 10.1136/ard.2004.026831.PubMedCentralCrossRefPubMed
92.
Ng PC, Levy S, Huang J, Stockwell TB, Walenz BP, Li K, Axelrod N, Busam DA, Strausberg RL, Venter JC: Genetic variation in an individual human exome. PLoS Genet. 2008, 4: e1000160-10.1371/journal.pgen.1000160.PubMedCentralCrossRefPubMed
93.
Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, Leemput van de J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB: Genotype, haplotype and copy-number variation in worldwide human populations. Nature. 2008, 451: 998-1003. 10.1038/nature06742.CrossRefPubMed
94.
Bhangale TR, Rieder MJ, Nickerson DA: Estimating coverage and power for genetic association studies using near-complete variation data. Nat Genet. 2008, 40: 841-843. 10.1038/ng.180.CrossRefPubMed
95.
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, Brown CG, Hall KP, Evers DJ, Barnes CL, Bignell HR, Boutell JM, Bryant J, Carter RJ, Keira Cheetham R, Cox AJ, Ellis DJ, Flat-bush MR, Gormley NA, Humphray SJ, Irving LJ, Karbelashvili MS, Kirk SM, Li H, Liu X, Maisinger KS, Murray LJ, Obradovic B, Ost T, Parkinson ML, Pratt MR, et al: Accurate whole human genome sequencing using reversible terminator chemistry. Nature. 2008, 456: 53-59. 10.1038/nature07517.PubMedCentralCrossRefPubMed
96.
Kryukov GV, Shpunt A, Stamatoyannopoulos JA, Sunyaev SR: Power of deep, all-exon resequencing for discovery of human trait genes. Proc Natl Acad Sci USA. 2009, 106: 3871-3876. 10.1073/pnas.0812824106.PubMedCentralCrossRefPubMed
97.
Chen Y, Zhu J, Lum PY, Yang X, Pinto S, MacNeil DJ, Zhang C, Lamb J, Edwards S, Sieberts SK, Leonardson A, Castellini LW, Wang S, Champy MF, Zhang B, Emilsson V, Doss S, Ghazalpour A, Horvath S, Drake TA, Lusis AJ, Schadt EE: Variations in DNA elucidate molecular networks that cause disease. Nature. 2008, 452: 429-435. 10.1038/nature06757.PubMedCentralCrossRefPubMed
Metadaten
Titel
Genetics of rheumatic disease
verfasst von
Alex Clarke
Timothy J Vyse
Publikationsdatum
01.10.2009
Verlag
BioMed Central
Erschienen in
Arthritis Research & Therapy / Ausgabe 5/2009
Elektronische ISSN: 1478-6362
DOI
https://doi.org/10.1186/ar2781

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