Genetics of rheumatoid arthritis

Mayo Clinic Proceedings

Volumn 81, Issue 1, 2006, Pages 94-101

  Turesson, Carl ^a,b   Matteson, Eric L ^a  

^a Mayo Clinic   (United States)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

5,10 METHYLENETETRAHYDROFOLATE REDUCTASE (FADH2); ARYLAMINE ACETYLTRANSFERASE; AZATHIOPRINE; CYTOKINE; DISEASE MODIFYING ANTIRHEUMATIC DRUG; DNA; GENE PRODUCT; HLA DR ANTIGEN; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; INFLIXIMAB; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 10; INTERLEUKIN 1ALPHA; INTERLEUKIN 1BETA; INTERLEUKIN 4; MAJOR HISTOCOMPATIBILITY ANTIGEN; METHOTREXATE; ORGANIC CATION TRANSPORTER; OSTEOCLAST DIFFERENTIATION FACTOR; PHOSPHORIBOSYLAMINOIMIDAZOLECARBOXAMIDE FORMYLTRANSFERASE; SALAZOSULFAPYRIDINE; TRANSCRIPTION FACTOR RUNX1; TRANSFORMING GROWTH FACTOR BETA1; TUMOR NECROSIS FACTOR ALPHA; TUMOR NECROSIS FACTOR RECEPTOR;

ALLELE; ARTHRITIS; AUTOIMMUNE DISEASE; BONE MARROW TOXICITY; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME 1Q; CHROMOSOME 5Q; CHROMOSOME 6P; CHROMOSOME 6Q; CHROMOSOME 8Q; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE PREDISPOSITION; DRUG METABOLISM; ENZYME ACTIVITY; GENE CLUSTER; GENE LOCUS; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HLA SYSTEM; HUMAN; IMMUNE RESPONSE; LIVER TOXICITY; META ANALYSIS; MULTICENTER STUDY; PATHOGENESIS; PHARMACOGENETICS; PURINE METABOLISM; REVIEW; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMATIC REVIEW; TREATMENT OUTCOME;

EID: 30344465333     PISSN: 00256196     EISSN: None     Source Type: Journal    
DOI: 10.4065/81.1.94     Document Type: Article

References (91)

1. Aho K, Koskenvuo M, Tuominen J, Kaprio J. Occurrence of rheumatoid arthritis in a nationwide series of twins. J Rheumatol. 1986;13:899-902.
2. 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.
3. Grant SF, Thorleifsson G, Frigge ML, et al. The inheritance of rheumatoid arthritis in Iceland. Arthritis Rheum. 2001;44:2247-2254.
4. MacGregor AJ, Snieder H, Rigby AS, et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum. 2000;43:30-37.
5. Symmons D, Harrison B. Early inflammatory polyarthritis: results from the norfolk arthritis register with a review of the literature, I: risk factors for the development of inflammatory polyarthritis and rheumatoid arthritis. Rheumatology (Oxford). 2000;39:835-843.
6. Silman AJ, Hochberg MC. Epidemiology of the Rheumatic Diseases. Oxford, England: Oxford University Press; 1993.
7. Silman AJ, Newman J, MacGregor AJ. Cigarette smoking increases the risk of rheumatoid arthritis: results from a nationwide study of disease-discordant twins. Arthritis Rheum. 1996;39:732-735.
8. Karlson EW, Lee IM, Cook NR, Manson JE, Buring JE, Hennekens CH. A retrospective cohort study of cigarette smoking and risk of rheumatoid arthritis in female health professionals. Arthritis Rheum. 1999;42:910-917.
9. Wolfe F. The effect of smoking on clinical, laboratory, and radiographic status in rheumatoid arthritis. J Rheumatol. 2000;27:630-637.
10. Saag KG, Cerhan JR, Kolluri S, Ohashi K, Hunninghake GW, Schwartz DA. Cigarette smoking and rheumatoid arthritis severity. Ann Rheum Dis. 1997;56:463-469.
11. Turesson C, O'Fallon WM, Crowson CS, Gabriel SE, Matteson EL. Extra-articular disease manifestations in rheumatoid arthritis: incidence trends and risk factors over 46 years. Ann Rheum Dis. 2003;62:722-727.
12. Padyukov L, Silva C, Stolt P, Alfredsson L, Klareskog L. A gene-environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis. Arthritis Rheum. 2004;50:3085-3092.
13. Stastny P. Mixed lymphocyte cultures in rheumatoid arthritis. J Clin Invest 1976;57:1148-1157.
14. Gibofsky A, Winchester RJ, Patarroyo M, Fotino M, Kunkel HG. Disease associations of the Ia-like human alloantigens: contrasting patterns in rheumatoid arthritis and systemic lupus erythematosus. J Exp Med. 1978;148: 1728-1732.
15. 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.
16. de Vries N, Tijssen H, van Kiel PL, van de Putte LB. Reshaping the shared epitope hypothesis: HLA-associated risk for rheumatoid arthritis is encoded by amino acid substitutions at positions 67-74 of the HLA-DRB1 molecule. Arthritis Rheum. 2002;46:921-928.
17. Williams RC, Jacobsson LT, Knowler WC, et al. Meta-analysis reveals association between most common class haplotype in full-heritage Native Americans and rheumatoid arthritis. Hum Immunol. 1995;42:90-94.
18. Beasley RP, Willkens RF, Bennett PH. High prevalence of rheumatoid arthritis in Yakima Indians. Arthritis Rheum. 1973;16:743-748.
19. Del Puente A, Knowler WC, Pettitt DJ, Bennett PH. High incidence and prevalence of rheumatoid arthritis in Pima Indians. Am J Epidemiol. 1989; 129:1170-1178.
20. Deighton CM, Walker DJ, Griffiths ID, Roberts DF. The contribution of HLA to rheumatoid arthritis. Clin Genet. 1989;36:178-182.
21. Cornelis F, Faure S, Martinez M, et al, ECRAF. New susceptibility locus for rheumatoid arthritis suggested by a genome-wide linkage study. Proc Natl Acad Sci U S A. 1998;95:10746-10750.
22. Osorio YF, Bukulmez H, Petit-Teixeira E, et al. Dense genome-wide linkage analysis of rheumatoid arthritis, including covariates. Arthritis Rheum. 2004;50:2757-2765.
23. MacKay K, Eyre S, Myerscough A, et al. Whole-genome linkage analysis of rheumatoid arthritis susceptibility loci in 252 affected sibling pairs in the United Kingdom [published correction appears in Arthritis Rheum. 2002;46: 1406]. Arthritis Rheum. 2002;46:632-639.
24. Jawaheer D, Seldin MF, Amos CI, et al. A genomewide screen in multiplex rheumatoid arthritis families suggests genetic overlap with other autoimmune diseases. Am J Hum Genet. 2001;68:927-936.
25. Jawaheer D, Seldin MF, Amos CI, et al, 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.
26. Shiozawa S, Hayashi S, Tsukamoto Y, et al. Identification of the gene loci that predispose to rheumatoid arthritis. Int Immunol. 1998;10:1891-1895.
27. 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.
28. Verpcort KN, van Gaalen FA, van der Helm-van Mil AH, et al. Association of HLA-DR3 with anti-cyclic citrullinated peptide antibody-negative rheumatoid arthritis. Arthritis Rheum. 2005;52:3058-3062.
29. Hill JA, Southwood S, Sette A, Jevnikar AM, Bell DA, Cairns E. Cutting edge: the conversion of arginine to citrulline allows for a high-affinity peptide interaction with the rheumatoid arthritis-associated HLA-DRB1*0401 MHC class II molecule. J Immunol. 2003;171:538-541.
30. Auger I, Sebbag M, Vincent C, et al. Influence of HLA-DR genes on the production of rheumatoid arthritis-specific autoantibodies to citrullinated fibrinogen. Arthritis Rheum. 2005;52:3424-3432.
31. Huizinga TW, Amos CI, van der Helm-van Mil AH, et al. Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis Rheum. 2005;52:3433-3438.
32. Brintnell W, Zeggini E, Barton A, et al. Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6p. Arthritis Rheum. 2004;50: 3823-3830.
33. Gaffney PM, Kearns GM, Shark KB, et al. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci U S A. 1998;95:14875-14879.
34. Shai R, Quismorio FP Jr, Li L, et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet. 1999;8:639-644.
35. Davies JL, Kawaguchi Y, Bennett ST, et al. A genome-wide search for human type 1 diabetes susceptibility genes. Nature. 1994;371:130-136.
36. Merriman T, Twells R, Merriman M, et al. Evidence by allelic association-dependent methods for a type 1 diabetes polygene (IDDM6) on chromosome 18q21. Hum Mol Genet. 1997;6:1003-1010.
37. Vaidya B, Imrie H, Perros P, et al. Evidence for a new Graves disease susceptibility locus at chromosome 18q21. Am J Hum Genet. 2000;66:1710-1714.
38. Li J, Sarosi I, Yan XQ, et al. RANK is the intrinsic hematopoietic cell surface receptor that controls osteoclastogenesis and regulation of bone mass and calcium metabolism. Proc Natl Acad Sci U S A. 2000;97:1566-1571.
39. Wu H, Khanna D, Park G, et al. Interaction between RANKL and HLA-DRB1 genotypes may contribute to younger age at onset of seropositive rheumatoid arthritis in an inception cohort. Arthritis Rheum. 2004;50:3093-3103.
40. Fisher SA, Lanchbury JS, Lewis CM. Meta-analysis of four rheumatoid arthritis genome-wide linkage studies: confirmation of a susceptibility locus on chromosome 16. Arthritis Rheum. 2003;48:1200-1206.
41. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411: 599-603.
42. Steer S, Fisher SA, Fife M, et al. Development of rheumatoid arthritis is not associated with two polymorphisms in the Crohn's disease gene CARD15. Rheumatology (Oxford). 2003;42:304-307.
43. Fife M, Steer S, Fisher S, et al. Association of familial and sporadic rheumatoid arthritis with a single corticotropin-releasing hormone genomic region (8q12.3) haplotype. Arthritis Rheum. 2002;46:75-82.
44. Chikanza IC, Petrou P, Kingsley G, Chrousos G, Panayi GS. Defective hypothalamic response to immune and inflammatory stimuli in patients with rheumatoid arthritis. Arthritis Rheum. 1992;35:1281-1288.
45. Gonzalez-Gay MA, Hajeer AH, Garcia-Porrua C, et al. Corticotropin- releasing hormone promoter polymorphisms in patients with rheumatoid arthritis from northwest Spain. J Rheumatol. 2003;30:913-917.
46. Tokuhiro S, Yaraada R, Chang X, et al. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporteras associated with rheumatoid arthritis. Nat Genet. 2003;35:341-348.
47. Weyand CM, Goronzy JJ. Functional domains on HLA-DR molecules: implications for the linkage of HLA-DR genes to different autoimmune diseases. Clin Immunol Immunopathol. 1994;70:91-98.
48. Turesson C, Weyand CM, Matteson EL. Genetics of rheumatoid arthritis: is there a pattern predicting extraarticular manifestations? Arthritis Rheum. 2004;51:853-863.
49. Weyand CM, Hicok KC, Conn DL, Goronzy JJ. The influence of HLA-DRB1 genes on disease severity in rheumatoid arthritis. Ann Intern Med. 1992; 117:801-806.
50. 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.
51. Combe B, Dougados M, Goupille P, et al. Prognostic factors for radiographic damage in early rheumatoid arthritis: a multiparameter prospective study. Arthritis Rheum. 2001;44:1736-1743.
52. Eberhardt K, Fex E, Johnson U, Wollheim FA. Associations of HLA-DRB and -DQB genes with two and five year outcome in rheumatoid arthritis. Ann Rheum Dis. 1996;55:34-39.
53. Suarez-Almazor ME, Tao S, Moustarah F, Russell AS, Maksymowych W. HLA-DR1, DR4, and DRB1 disease related subtypes in rheumatoid arthritis: association with susceptibility but not severity in a city wide community based study. J Rheumatol. 1995;22:2027-2033.
54. Fries JF, Wolfe F, Apple R, et al. HLA-DRB1 genotype associations in 793 white patients from a rheumatoid arthritis inception cohort: frequency, severity, and treatment bias. Arthritis Rheum. 2002;46:2320-2329.
55. Gorman JD, Lum RF, Chen JJ, Suarez-Almazor ME, Thomson G, Criswell LA. Impact of shared epitope genotype and ethnicity on erosive disease: a meta-analysis of 3,240 rheumatoid arthritis patients. Arthritis Rheum. 2004;50:400-412.
56. Gorman JD, David-Vaudey E, Pai M, Lum RF, Criswell LA. Particular HLA-DRB1 shared epitope genotypes are strongly associated with rheumatoid vasculitis. Arthritis Rheum. 2004;50:3476-3484.
57. Goronzy JJ, Matteson EL, Fulbright JW, et al. Prognostic markers of radiographic progression in early rheumatoid arthritis. Arthritis Rheum. 2004; 50:43-54.
58. Turesson C, Schaid DJ, Weyand CM, et al. The impact of HLA-DRB1 genes on extra-articular disease manifestations in rheumatoid arthritis. Arthritis Res Ther. 2005;7:R1386-R1393.
59. Gossec L, Bettembourg-Brault I, Pham T, Dougados M. HLA DRB1*01 and DRB1*04 phenotyping does not predict the need for joint surgery in rheumatoid arthritis: a retrospective quantitative evaluation of 300 French patients. Clin Exp Rheumatol. 2004;22:462-464.
60. Lard LR, Boers M, Verhoeven A, et al. Early and aggressive treatment of rheumatoid arthritis patients affects the association of HLA class II antigens with progression of joint damage. Arthritis Rheum. 2002;46:899-905.
61. Mattey D, Thomson W, Ollier WER, Koduri G, Young A. Association of the HLA-DRB1 shared epitope with mortality in rheumatoid arthritis [abstract]. Arthritis Rheum. 2004;50(suppl):S381. Abstract 936.
62. Goronzy JJ, Weyand CM. Aging, autoimmunity and arthritis: T-cell senescence and contraction of T-cell repertoire diversity - catalysts of autoimmunity and chronic inflammation. Arthritis Res Ther. 2003;5:225-234.
63. Yen JH, Moore BE, Nakajima T, et al. Major histocompatibility complex class I-recognizing receptors are disease risk genes in rheumatoid arthritis. J Exp Med. 2001;193:1159-1167.
64. Turesson C, Schaid DJ, Weyand CM, et al. Association of HLA-C3 and smoking with vasculitis in patients with rheumatoid arthritis [abstract]. Arthritis Rheum. 2004;50(suppl):S162. Abstract 294.
65. Morel J, Roch-Bras F, Molinari N, Sany J, Eliaou JF, Combe B. HLA-DMA*0103 and HLA-DMB*0104 alleles as novel prognostic factors in rheumatoid arthritis. Ann Rheum Dis. 2004;63:1581-1586.
66. Feldmann M, Brennan FM, Maini RN. Role of cytokines in rheumatoid arthritis. Annu Rev Immunol. 1996;14:397-440.
67. Lipsky PE, van der Heijde DM, St Clair EW, et al, Anti-Tumor Necrosis Factor Trial in Rheumatoid Arthritis with Concomitant Therapy Study Group. Infliximab and methotrexate in the treatment of rheumatoid arthritis. N Engl J Med. 2000;343:1594-1602.
68. Kaijzel EL, Bayley JP, van Krugten MV, et al. Allele-specific quantification of tumor necrosis factor alpha (TNF) transcription and the role of promoter polymorphisms in rheumatoid arthritis patients and healthy individuals. Genes Immun. 2001;2:135-144.
69. Kaijzel EL, van Krugten MV, Brinkman BM, et al. Functional analysis of a human tumor necrosis factor alpha (TNF-alpha) promoter polymorphism related to joint damage in rheumatoid arthritis. Mol Med. 1998;4:724-733.
70. Meyer JM, Han J, Moxley G. Tumor necrosis factor markers show sex-influenced association with rheumatoid arthritis. Arthritis Rheum. 2001;44: 286-295.
71. Castro F, Acevedo E, Ciusani E, Angulo JA, Wollheim FA, Sandberg-Wollheim M. 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.
72. Mattey DL, Hassell AB, Dawes PT, Ollier WE, Hajeer A. Interaction between tumor necrosis factor microsatellite polymorphisms and the HLA-DRB1 shared epitope in rheumatoid arthritis: influence on disease outcome. Arthritis Rheum. 1999;42:2698-2704.
73. Mu H, Chen JJ, Jiang Y, King MC, Thomson G, Criswell LA. Tumor necrosis factor a microsatellite polymorphism is associated with rheumatoid arthritis severity through an interaction with the HLA-DRB1 shared epitope. Arthritis Rheum. 1999;42:438-442.
74. Mattey DL, Dawes PT, Fisher J, et al. Nodular disease in rheumatoid arthritis: association with cigarette smoking and HLA-DRB1/TNF gene interaction. J Rheumatol. 2002;29:2313-2318.
75. 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.
76. Genevay S, Di Giovine FS, Perneger TV, et al. Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis. Arthritis Rheum. 2002;47:303-309.
77. Jouvenne P, Chaudhary A, Buchs N, Giovine FS, Duff GW, Miossec P. Possible genetic association between interleukin-1 alpha gene polymorphism and the severity of chronic polyarthritis. Eur Cytokine Netw. 1999;10:33-36.
78. 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.
79. Nesher G, Mates M, Zevin S. Effect of caffeine consumption on the efficacy of methotrexate in rheumatoid arthritis. Arthritis Rheum. 2003;48: 571-572.
80. Lee M, Min DI, Ku YM, Flanigan M. Effect of grapefruit juice on pharmacokinetics of microemulsion cyclosporine in African American subjects compared with Caucasian subjects: does ethnic difference matter? J Clin Pharmacol. 2001;41:317-323.
81. Kumagai K, Hiyama K, Oyama T, Maeda H, Kahno N. Polymorphisms in the thymidylate synthase and methylenetetrahydrofolate reductase genes and sensitivity to the low-dose methotrexate therapy in patients with rheumatoid arthritis. Int J Mol Med. 2003;11:593-600.
82. van Ede AE, Laan RF, Blom JH, et al. The C677T mutation in the methylenetetrahydrofolate reductase gene: a genetic risk factor for methotrexate-related elevation of liver enzymes in rheumatoid arthritis patients. Arthritis Rheum. 2001;44:2525-2530.
83. Dervieux T, Lein DO, Park G, et al. Single nucleotide polymorphisms (SNPs) in the folate/purine synthesis pathway predict methotrexate's effects in rheumatoid arthritis [abstract]. Arthritis Rheum. 2003;48(suppl):S438. Abstract 1093.
84. Wolf J, Stranzl T, Filipits M, et al. Expression of resistance markers to methotrexate predicts clinical improvement in patients with rheumatoid arthritis. Ann Rheum Dis. 2005;64:564-568.
85. Clunie GP, Lennard L. Relevance of thiopurine methyltransferase status in rheumatology patients receiving azathioprine. Rheumatology (Oxford). 2004;43:13-18.
86. Tanaka E, Taniguchi A, Urano W, et al. Adverse effects of sulfasalazine in patients with rheumatoid arthritis are associated with diplotype configuration at the N-acetyltransferase 2 gene. J Rheumatol. 2002;29:2492-2499.
87. Criswell LA, Lum RF, Turner KN, et al. The influence of genetic variation in the HLA-DRB1 and LTA-TNF regions on the response to treatment of early rheumatoid arthritis with methotrexate or etanercept. Arthritis Rheum. 2004;50:2750-2756.
88. Field M. Tumour necrosis factor polymorphisms in rheumatic diseases. QJM. 2001;94:237-246.
89. Prevoo ML, van't Hof MA, Kuper HH, van Leeuwen MA, van de Putte LB, van Riel PL. Modified disease activity scores that include twenty-eight-joint counts: development and validation in a prospective longitudinal study of patients with rheumatoid arthritis. Arthritis Rheum. 1995;38:44-48.
90. Padyukov L, Lampa J, Heimburger M, et al. Genetic markers for the efficacy of tumour necrosis factor blocking therapy in rheumatoid arthritis. Ann Rheum Dis. 2003;62:526-529.
91. Schotte H, Schlüter B, Drynda S, et al. Interleukin 10 promoter micro-satellite polymorphisms are associated with response to long term treatment with etanercept in patients with rheumatoid arthritis. Ann Rheum Dis. 2005; 64:575-581.