A review of the MHC genetics of rheumatoid arthritis

Genes and Immunity - Tập 5 Số 3 - Trang 151-157 - 2004
JL Newton1, S. Harney1, BP Wordsworth1, Matthew A. Brown1
1Institute of Musculoskeletal Sciences, University of Oxford, The Botnar Research Centre, Nuffield Orthopaedic Centre, Headington, Oxford, UK.

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Silman AJ, MacGregor AJ, Thomson W et al. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br J Rheumatol 1993; 32: 903–907.

Aho K, Koskenvuo M, Tuominen J, Kaprio J . Occurrence of rheumatoid arthritis in a nationwide series of twins. J Rheumatol 1986; 13: 899–902.

Lawrence JS . The epidemiology and genetics of rheumatoid arthritis. Rheumatology 1969; 2: 1–36.

Silman AJ . Problems complicating the genetic epidemiology of rheumatoid arthritis. J Rheumatol 1997; 24: 194–196.

Milner CM, Campbell RD . Genetic organization of the human MHC class III region. Front Biosci 2001; 6: D914–D926.

Stastny P . Mixed lymphocyte cultures in rheumatoid arthritis. J Clin Invest 1976; 57: 1148–1157.

Gregersen PK, Silver J, Winchester RJ . The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum 1987; 30: 1205–1213.

Milicic A, Lee D, Brown MA, Darke C, Wordsworth BP . HLA-DR/DQ haplotype in rheumatoid arthritis: novel allelic associations in UK Caucasians. J Rheumatol 2002; 29: 1821–1826.

Rigby AS, Silman AJ, Voelm L et al. Investigating the HLA component in rheumatoid arthritis: an additive (dominant) mode of inheritance is rejected, a recessive mode is preferred. Genet Epidemiol 1991; 8: 153–175.

Rigby AS, Voelm L, Silman AJ . Epistatic modeling in rheumatoid arthritis: an application of the Risch theory. Genet Epidemiol 1993; 10: 311–320.

Genin E, Babron MC, McDermott MF et al. Modelling the major histocompatibility complex susceptibility to RA using the MASC method. Genet Epidemiol 1998; 15: 419–430.

Gough A, Faint J, Salmon M et al. Genetic typing of patients with inflammatory arthritis at presentation can be used to predict outcome. Arthritis Rheum 1994; 37: 1166–1170.

MacGregor A, Ollier W, Thomson W, Jawaheer D, Silman A . HLA-DRB1*0401/0404 genotype and rheumatoid arthritis: increased association in men, young age at onset, and disease severity. J Rheumatol 1995; 22: 1032–1036.

Wordsworth P, Pile KD, Buckely JD et al. HLA heterozygosity contributes to susceptibility to rheumatoid arthritis. Am J Hum Genet 1992; 51: 585–591.

Hall FC, Weeks DE, Camilleri JP et al. Influence of the HLA-DRB1 locus on susceptibility and severity in rheumatoid arthritis. QJM 1996; 89: 821–829.

Deighton CM, Walker DJ, Griffiths ID, Roberts DF . The contribution of HLA to rheumatoid arthritis. Clin Genet 1989; 36: 178–182.

Nepom GT, Nepom BS . Prediction of susceptibility to rheumatoid arthritis by human leukocyte antigen genotyping. Rheum Dis Clin N Am 1992; 18: 785–792.

Nabozny GH, Baisch JM, Cheng S et al. HLA-DQ8 transgenic mice are highly susceptible to collagen-induced arthritis: a novel model for human polyarthritis. J Exp Med 1996; 183: 27–37.

Bradley DS, Nabozny GH, Cheng S et al. HLA-DQB1 polymorphism determines incidence, onset, and severity of collagen-induced arthritis in transgenic mice. Implications in human rheumatoid arthritis. J Clin Invest 1997; 100: 2227–2234.

Taneja V, Griffiths MM, Luthra H, David CS . Modulation of HLA-DQ-restricted collagen-induced arthritis by HLA-DRB1 polymorphism. Int Immunol 1998; 10: 1449–1457.

Zanelli E, Krco CJ, David CS . Critical residues on HLA-DRB1*0402 HV3 peptide for HLA-DQ8-restricted immunogenicity: implications for rheumatoid arthritis predisposition. J Immunol 1997; 158: 3545–3551.

Zanelli E, Breedveld FC, de Vries RR . HLA association with autoimmune disease: a failure to protect? Rheumatology (Oxford) 2000; 39: 1060–1066.

van der Horst-Bruinsma IE, Visser H, Hazes JM et al. HLA-DQ-associated predisposition to and dominant HLA-DR-associated protection against rheumatoid arthritis. Hum Immunol 1999; 60: 152–158.

de Vries N, van Elderen C, Tijssen H, van Riel PL, van de Putte LB . No support for HLA-DQ encoded susceptibility in rheumatoid arthritis. Arthritis Rheum 1999; 42: 1621–1627.

Cranney A, Goldstein R, Pham B, Newkirk MM, Karsh J . A measure of limited joint motion and deformity correlates with HLA-DRB1 and DQB1 alleles in patients with rheumatoid arthritis. Ann Rheum Dis 1999; 58: 703–708.

Lanchbury JS, Jaeger EE, Sansom DM et al. Strong primary selection for the Dw4 subtype of DR4 accounts for the HLA-DQw7 association with Felty's syndrome. Hum Immunol 1991; 32: 56–64.

Hajeer AH, Dababneh A, Makki RF et al. Different gene loci within the HLA-DR and TNF regions are independently associated with susceptibility and severity in Spanish rheumatoid arthritis patients. Tissue Antigens 2000; 55: 319–325.

Martinez A, Fernandez-Arquero M, Pascual-Salcedo D et al. Primary association of tumor necrosis factor-region genetic markers with susceptibility to rheumatoid arthritis. Arthritis Rheum 2000; 43: 1366–1370.

Plevy SE, Targan SR, Yang H, Fernandez D, Rotter JI, Toyoda H . Tumor necrosis factor microsatellites define a Crohn's disease-associated haplotype on chromosome 6. Gastroenterology 1996; 110: 1053–1060.

Waldron-Lynch F, Adams C, Amos C et al. Tumour necrosis factor 5′ promoter single nucleotide polymorphisms influence susceptibility to rheumatoid arthritis (RA) in immunogenetically defined multiplex RA families. Genes Immun 2001; 2: 82–87.

Lie BA, Ronningen KS, Akselsen HE, Thorsby E, Undlien DE . Application and interpretation of transmission/disequilibrium tests: transmission of HLA-DQ haplotypes to unaffected siblings in 526 families with type 1 diabetes. Am J Hum Genet 2000; 66: 740–743.

Koeleman BP, Dudbridge F, Cordell HJ, Todd JA . Adaptation of the extended transmission/disequilibrium test to distinguish disease associations of multiple loci: the conditional extended transmission/disequilibrium test. Ann Hum Genet 2000; 64: 207–213.

Stephens M, Smith NJ, Donnelly P . A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001; 68: 978–989.

Newton J, Brown MA, Milicic A et al. The effect of HLA-DR on susceptibility to rheumatoid arthritis is influenced by the associated lymphotoxin alpha-tumor necrosis factor haplotype. Arthritis Rheum 2003; 48: 90–96.

Zanelli E, Jones G, Pascual M et al. The telomeric part of the HLA region predisposes to rheumatoid arthritis independently of the class II loci. Hum Immunol 2001; 62: 75–84.

Jawaheer D, Gregersen PK . Rheumatoid arthritis. The genetic components. Rheum Dis Clin North Am 2002; 28: 1–15.

Okamoto K, Makino K, Yoshikawa Y et al. Identification of I kappa BL as the second major histocompatibility complex-linked susceptibility locus for rheumatoid arthritis. Am J Hum Genet 2003; 72: 303–312.

Jawaheer D, Li W, Graham RR et al. Dissecting the genetic complexity of the association between human leukocyte antigens and rheumatoid arthritis. Am J Hum Genet 2002; 71: 585–594.

Singal DP, Li J, Lei K . Genetics of rheumatoid arthritis (RA): two separate regions in the major histocompatibility complex contribute to susceptibility to RA. Immunol Lett 1999; 69: 301–306.

ten Wolde S, Breedveld FC, de Vries RR et al. Influence of non-inherited maternal HLA antigens on occurrence of rheumatoid arthritis. Lancet 1993; 341: 200–202.

Barrera P, Balsa A, Alves H et al. Noninherited maternal antigens do not play a role in rheumatoid arthritis susceptibility in Europe. European Consortium on Rheumatoid Arthritis Families. Arthritis Rheum 2000; 43: 758–764.

Barrera P, Balsa A, Alves H et al. Noninherited maternal antigens do not increase the susceptibility for familial rheumatoid arthritis. European Consortium on Rheumatoid Arthritis Families (ECRAF). J Rheumatol 2001; 28: 968–974.

Harney S, Newton J, Milicic A, Brown MA, Wordsworth BP . Non-inherited maternal HLA alleles are associated with rheumatoid arthritis. Rheumatology (Oxford) 2003; 42: 171–174.

Angelini G, Morozzi G, Delfino L et al. Analysis of HLA DP, DQ, and DR alleles in adult Italian rheumatoid arthritis patients. Hum Immunol 1992; 34: 135–141.

Perdriger A, Semana G, Quillivic F et al. DPB1 polymorphism in rheumatoid arthritis: evidence of an association with allele DPB1 0401. Tissue Antigens 1992; 39: 14–18.

Brinkman BM, Giphart MJ, Verhoef A et al. Tumor necrosis factor alpha-308 gene variants in relation to major histocompatibility complex alleles and Felty's syndrome. Hum Immunol 1994; 41: 259–266.

Vandevyver C, Raus P, Stinissen P, Philippaerts L, Cassiman JJ, Raus J . Polymorphism of the tumour necrosis factor beta gene in multiple sclerosis and rheumatoid arthritis. Eur J Immunogenet 1994; 21: 377–382.

Singal DP, Ye M, Qiu X, D'Souza M . Polymorphisms in the TAP2 gene and their association with rheumatoid arthritis. Clin Exp Rheumatol 1994; 12: 29–33.

Wilson AG, de Vries N, van de Putte LB, Duff GW . A tumour necrosis factor alpha polymorphism is not associated with rheumatoid arthritis. Ann Rheum Dis 1995; 54: 601–603.

Vandevyver C, Geusens P, Cassiman JJ, Raus J . Peptide transporter genes (TAP) polymorphisms and genetic susceptibility to rheumatoid arthritis. Br J Rheumatol 1995; 34: 207–214.

Maksymowych WP, Tao S, Luong M et al. Polymorphism in the LMP2 and LMP7 genes and adult rheumatoid arthritis: no relationship with disease susceptibility or outcome. Tissue Antigens 1995; 46: 136–139.

Wordsworth BP, Pile KD, Gibson K, Burney RO, Mockridge I, Powis SH . Analysis of the MHC-encoded transporters TAP1 and TAP2 in rheumatoid arthritis: linkage with DR4 accounts for the association with a minor TAP2 allele. Tissue Antigens 1993; 42: 153–155.

Mulcahy B, Waldron-Lynch F, McDermott MF et al. Genetic variability in the tumor necrosis factor-lymphotoxin region influences susceptibility to rheumatoid arthritis. Am J Hum Genet 1996; 59: 676–683.

Hillarby MC, Davies EJ, Donn RP, Grennan DM, Ollier WE . TAP2D is associated with HLA-B44 and DR4 and may contribute to rheumatoid arthritis and Felty's syndrome susceptibility. Clin Exp Rheumatol 1996; 14: 67–70.

Field M, Gallagher G, Eskdale J et al. Tumor necrosis factor locus polymorphisms in rheumatoid arthritis. Tissue Antigens 1997; 50: 303–307.

Brinkman BM, Huizinga TW, Kurban SS et al. Tumour necrosis factor alpha gene polymorphisms in rheumatoid arthritis: association with susceptibility to, or severity of, disease? Br J Rheumatol 1997; 36: 516–521.

Vinasco J, Beraun Y, Nieto A et al. Polymorphism at the TNF loci in rheumatoid arthritis. Tissue Antigens 1997; 49: 74–78.

Vinasco J, Beraun Y, Nieto A et al. Heat shock protein 70 gene polymorphisms in rheumatoid arthritis. Tissue Antigens 1997; 50: 71–73.

Singal DP, Li J, Ye M, Lei K . D6S273 microsatellite polymorphism and susceptibility to rheumatoid arthritis. Tissue Antigens 1998; 52: 353–358.

Tuokko J, Pushnova E, Yli-Kerttula U, Toivanen A, Ilonen J . TAP2 alleles in inflammatory arthritis. Scand J Rheumatol 1998; 27: 225–229.

Vinasco J, Fraile A, Nieto A et al. Analysis of LMP and TAP polymorphisms by polymerase chain reaction-restriction fragment length polymorphism in rheumatoid arthritis. Ann Rheum Dis 1998; 57: 33–37.

van Krugten MV, Huizinga TW, Kaijzel EL et al. Association of the TNF +489 polymorphism with susceptibility and radiographic damage in rheumatoid arthritis. Genes Immun 1999; 1: 91–96.

Waldron-Lynch F, Adams C, Shanahan F, Molloy MG, O'Gara F . Genetic analysis of the 3′ untranslated region of the tumour necrosis factor shows a highly conserved region in rheumatoid arthritis affected and unaffected subjects. J Med Genet 1999; 36: 214–216.

Seki N, Kamizono S, Yamad A et al. Polymorphisms in the 5′-flanking region of tumor necrosis factor-alpha gene in patients with rheumatoid arthritis. Tissue Antigens 1999; 54: 194–197.

Bali D, Gourley S, Kostyu DD et al. Genetic analysis of multiplex rheumatoid arthritis families. Genes Immun 1999; 1: 28–36.

Perdriger A, Guggenbuhl P, Chales G et al. Positive association of the HLA DMB1*0101-0101 genotype with rheumatoid arthritis. Rheumatology (Oxford) 1999; 38: 448–452.

Singal DP, Ye M, Buchanan WW, Qiu X . HLA-D region genes and susceptibility to rheumatoid arthritis. Transplant Proc 1997; 29: 1126.

Shibue T, Tsuchiya N, Komata T et al. Tumor necrosis factor alpha 5′-flanking region, tumor necrosis factor receptor II, and HLA-DRB1 polymorphisms in Japanese patients with rheumatoid arthritis. Arthritis Rheum 2000; 43: 753–757.

Singal DP, Li J, Zhu Y . HLA class III region and susceptibility to rheumatoid arthritis. Clin Exp Rheumatol 2000; 18: 485–491.

Vejbaesya S, Luangtrakool P, Luangtrakool K, Sermduangprateep C, Parivisutt L . Analysis of TAP and HLA-DM polymorphism in Thai rheumatoid arthritis. Hum Immunol 2000; 61: 309–313.

Jenkins SC, March RE, Campbell RD, Milner CM . A novel variant of the MHC-linked hsp70, hsp70-hom, is associated with rheumatoid arthritis. Tissue Antigens 2000; 56: 38–44.

Castro F, Acevedo E, Ciusani E et al. Tumour necrosis factor microsatellites and HLA-DRB1*, HLA-DQA1*, and HLA-DQB1* alleles in Peruvian patients with rheumatoid arthritis. Ann Rheum Dis 2001; 60: 791–795.

Hadj Kacem H, Kaddour N, Adyel FZ, Bahloul Z, Ayadi H . HLA-DQB1 CAR1/CAR2, TNFa IR2/IR4 and CTLA-4 polymorphisms in Tunisian patients with rheumatoid arthritis and Sjogren's syndrome. Rheumatology (Oxford) 2001; 40: 1370–1374.

Ota M, Katsuyamana Y, Kimura A et al. A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70-kb interval telomeric of the TNF genes in the HLA class III region. Genomics 2001; 71: 263–270.

Tuokko J, Nejentsev S, Luukkainen R, Toivanen A, Ilonen J . HLA haplotype analysis in Finnish patients with rheumatoid arthritis. Arthritis Rheum 2001; 44: 315–322.

Singal DP, Li J, Zhang G . Microsatellite polymorphism of the MICA gene and susceptibility to rheumatoid arthritis. Clin Exp Rheumatol 2001; 19: 451–452.

Martinez A, Fernandez-Arquero M, Balsa A et al. Primary association of a MICA allele with protection against rheumatoid arthritis. Arthritis Rheum 2001; 44: 1261–1265.

Low AS, Gonzalez-Gay MA, Akil M et al. TNF +489 polymorphism does not contribute to susceptibility to rheumatoid arthritis. Clin Exp Rheumatol 2002; 20: 829–832.

Udalova IA, Richardson A, Ackerman H, Wordsworth P, Kwiatkowski D . Association of accelerated erosive rheumatoid arthritis with a polymorphism that alters NF-kappaB binding to the TNF promoter region. Rheumatology (Oxford) 2002; 41: 830–831.

Cvetkovic JT, Wallberg-Jonsson S, Stegmayr B, Rantapaa-Dahlqvist S, Lefvert AK . Susceptibility for and clinical manifestations of rheumatoid arthritis are associated with polymorphisms of the TNF-alpha, IL-1beta, and IL-1Ra genes. J Rheumatol 2002; 29: 212–219.

Pascual M, Mataran L, Jones G et al. HLA haplotypes and susceptibility to rheumatoid arthritis. More than class II genes. Scand J Rheumatol 2002; 31: 275–278.