Genetic epidemiology of rheumatoid arthritis

Current Opinion in Rheumatology

Volumn 18, Issue 2, 2006, Pages 141-146

  Oliver, Jacqueline E ^a   Worthington, Jane ^a   Silman, Alan J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

CTLA 4; Cytokine; FCRL3; Human leukocyte antigen; MHC2TA; Outcome; PADI4; PTPN22; Treatment

Indexed keywords

CYTOTOXIC T LYMPHOCYTE ANTIGEN 4; FC RECEPTOR; HLA ANTIGEN; PROTEIN ARGININE DEIMINASE;

DISEASE SEVERITY; GENE LOCUS; GENETIC ASSOCIATION; GENETIC EPIDEMIOLOGY; GENETIC PREDISPOSITION; HUMAN; PRIORITY JOURNAL; REVIEW; RHEUMATOID ARTHRITIS; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM;

ANTIRHEUMATIC AGENTS; ARTHRITIS, RHEUMATOID; DRUG RESISTANCE; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE-PHOSPHATASE;

EID: 33646710612     PISSN: 10408711     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.bor.0000209425.84775.23     Document Type: Review

References (60)

1. Osorio YF, Bukulmez H, Petit-Teixeira E, et al. Dense genome-wide linkage analysis of rheumatoid arthritis, including covariates. Arthr Rheum 2004; 50:2757-2765.
2. Tamiya G, Shinya M, Imanishi T, et al. Whole genome association study of rheumatoid arthritis using 27 039 microsatellites. Hum Mol Genet 2005; 14:2305-2321.
3. Laivoranta-Nyman S, Mottonen T, Hermann R, et al. HLA-DR-DQ haplotypes and genotypes in Finnish patients with rheumatoid arthritis. Ann Rheum Dis 2004; 63:1406-1412.
4. Lee HS, Lee KW, Song GG, et al. Increased susceptibility to rheumatoid arthritis in Koreans heterozygous for HLA-DRB1 *0405 and *0901. Arthr Rheum 2004; 50:3468-3475.
5. Oen K, Robinson DB, Nickerson P, et al. Familial seropositive rheumatoid arthritis in north American native families: effects of shared epitope and cytokine genotypes. J Rheumatol 2005; 32:983-991.
6. Wu H, Khanna D, Park G, et al. Interaction between RANKL and HLA-DRBI genotypes may contribute to younger age at onset of seropositive rheumatoid arthritis in an inception cohort. Arthr Rheum 2004; 50:3093-3103.
7. du Montcel ST, Michou L, Petit-Teixeira E, et al. New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthr Rheum 2005; 52:1063-1068.
8. Brintnell W, Zeggini E, Barton A, et al. Evidence for a novel rheumatoid arthritis susceptibility locus on chromosome 6p. Arthr Rheum 2004; 50:3823-3830.
9. Padyukov L, Silva C, Stolt P, et al. A gene - environment interaction between smoking and shared epitope genes in HLA-DR provides a high risk of seropositive rheumatoid arthritis. Arthr Rheum 2004; 50:3085-3092. A large population based case-control study showed evidence of an important interaction between a known genetic risk factor for rheumatoid arthritis - the shared epitope - with an environmental risk factor - smoking.
10. Hinks A, Barton A, John S, et al. Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene. Arthr Rheum 2005; 52:1694-1699.
11. Lee AT, Li W, Liew A, et al. The PTPN22 R620W polymorphism associates with RF positive rheumatoid arthritis in a dose-dependent manner but not with HLA-SE status. Genes Immun 2005; 6:129-133.
12. Seldin MF, Shigeta R, Laiho K, et al. Finnish case-control and family studies support PTPN22 R620W polymorphism as a risk factor in rheumatoid arthritis, but suggest only minimal or no effect in juvenile idiopathic arthritis. Genes Immun 2005; E-pub ahead of press: 18 August 2005; doi: 10.1038/ sj.gene.6364255.
13. Steer S, Lad B, Grumley JA, et al. Association of R602W in a protein tyrosine phosphatase gene with a high risk of rheumatoid arthritis in a British population: evidence for an early onset/disease severity effect. Arthr Rheum 2005; 52:358-360.
14. Orozco G, Sanchez E, Gonzalez-Gay MA, et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthr Rheum 2005; 52:219-224.
15. Viken MK, Amundsen SS, Kvien TK, et al. Association analysis of the 1858C > T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 2005; 6:271-273.
16. Kyogoku C, Langefeld CD, Ortmann WA, et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75:504-507.
17. Reddy MV, Johansson M, Sturfelt G, et al. The R620W C/T polymorphism of the gene PTPN22 is associated with SLE independently of the associationof PDCD1. Genes Immun 2005; E-pub ahead of press: 4 August 2005; doi: 10.1038/sj.gene.6364252.
18. Skorka A, Bednarczuk T, Bar-Andziak E, et al. Lymphoid tyrosine phosphatase (PTPN22/LYP) variant and Graves' disease in a Polish population: association and gene dose-dependent correlation with age of onset. Clin Endocrinol (Oxf) 2005; 62:679-682.
19. Smyth D, Cooper JD, Collins JE, et al. Replication of an association between the lymphoid tyrosine phosphatase locus (LYP/PTPN22) with type 1 diabetes, and evidence for its role as a general autoimmunity locus. Diabetes 2004; 53:3020-3023.
20. Velaga MR, Wilson V, Jennings CE, et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89:5862-5865.
21. Carlton VEH, Hu XL, Chokkalingam AP, et al. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005; 77:567-581.
22. Vang T, Congia M, Macis MD, et al. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37:1317-1319. Rheumatoid arthritis-associated PTPN22 (620W) allele encodes a gain-of-function variant.
23. Han S, Li Y, Mao Y, et al. Meta-analysis of the association of CTLA-4 exon-1 +49A/G polymorphism with rheumatoid arthritis. Hum Genet 2005; 118:123-132.
24. Zhernakova A, Eerligh P, Barrera P, et al. CTLA4 is differentially associated with autoimmune diseases in the Dutch population. Hum Genet 2005; 118:58-66.
25. Orozco G, Torres B, Nunez-Roldan A, et al. Cytotoxic T-lymphocyte antigen-4-CT60 polymorphism in rheumatoid arthritis. Tiss Antigen 2004; 64:667-670.
26. Suzuki A, Yamada R, Chang X, et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 2003; 34:395-402.
27. Barton A, Bowes J, Eyre S, et al. Investigation of polymorphisms in the PADI4 gene in determining severity of inflammatory polyarthritis. Ann Rheum Dis 2005; 64:1311-1315.
28. Harney SMJ, Meisel C, Sims AM, et al. Genetic and genomic studies of PADI4 in rheumatoid arthritis. Rheumatology (Oxford) 2005; 44:869-872.
29. Martinez A, Valdivia A, Pascual-Salcedo D, et al. PADI4 polymorphisms are not associated with rheumatoid arthritis in the Spanish population. Rheumatology (Oxford) 2005; 44:1263-1266.
30. Caponi L, Petit-Teixeira E, Sebbag M, et al. A family base study shows no association between rheumatoid arthritis and the PADI4 gene in a white French population. Ann Rheum Dis 2005; 64:587-593.
31. Ikari K, Kuwahara M, Nakamura T, et al. Association between PADI4 and rheumatoid arthritis: a replication study. Arthr Rheum 2005; 52:3054-3057.
32. Mori M, Yamada R, Kobayashi K, et al. Ethnic differences in allele frequency of autoimmune-disease-associated SNPs. J Hum Genet 2005; 50:264-266. An association with a four SNP PAD14 haplotype appears to be specific to Japanese and is not found in Caucasian populations.
33. Kochi Y, Yamada R, Suzuki A, et al. A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities. Nat Genet 2005; 37:478-485.
34. Ikari K, Momohara S, Nakamura T, et al. Supportive evidence for a genetic association of the FCRL3 promoter polymorphism with rheumatoid arthritis. Ann Rheum Dis 2005; E-pub ahead of press: September 2005; doi: 10.1136/ard.2005. 043489.
35. Swanberg M, Lidman O, Padyukov L, et al. MHC2TA is associated with differential MHC molecule expression and susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction. Nat Genet 2005; 37:486-494.
36. Marotte H, Pallot-Prades B, Grange L, et al. The shared epitope is a marker of severity associated with selection for, but not with response to infliximab in a large rheumatoid arthritis population. Ann Rheum Dis 2005; 11 August 2005; doi 10.1136/ard.2005.037150. A large population study that identified no useful genetic predictors of infliximab response.
37. Marotte H, Farge P, Gaudin P, et al. The association between periodontal disease and joint destruction in rheumatoid arthritis patients extends the link between the HLA-DR shared epitope and bone destruction severity. Ann Rheum Dis 2005; 10 November 2005; doi 10.1136/ard.2005.036913.
38. van der Helm-van Mil A, Huizinga TWJ, Schreuder GMT, et al. An independent role of protective HLA class II alleles in rheumatoid arthritis severity and susceptibility. Arthr Rheum 2005; 52:2637-2644. A large cohort study that provides evidence of a protective role for the DERAA-encoding HLA-DRB1 alleles in rheumatoid arthritis.
39. van der Helm-van Mil A, Dieude P, Schonkeren JJM, et al. No association between tumour necrosis factor receptor type 2 gene polymorphism and rheumatoid arthritis severity: a comparison of the extremes of phenotypes. Rheumatology (Oxford) 2004; 43:1232-1234. An interesting study that compares phenotype extremes to rule out an association between the TNF receptor type 2 polymorphism and rheumatoid arthritis severity.
40. Agrawal C, Raghav SK, Gupta B, et al. Tumor necrosis factor-alpha microsatellite polymorphism association with rheumatoid arthritis in Indian patients. Arch Med Res 2005; 36:555-559.
41. Rodriguez-Carreon AA, Zuniga J, Hernandez-Pacheco G, et al. Tumor necrosis factor-alpha-308 promoter polymorphism contributes independently to HLA alleles in the severity of rheumatoid arthritis in Mexicans. J Autoimmun 2005; 24:63-68.
42. Pawlik A, Kurzawski A, Florczak A, et al. IL-1 beta+3953 exon 5 and IL-2-330 promoter polymorphisms in patients with rheumatoid arthritis. Clin Exp Rheumatol 2005; 23:159-164.
43. Pawlik A, Wrzesniewska J, Florczak M, et al. IL-6 promoter polymorphism in patients with rheumatoid arthritis. Scand J Rheumatol 2005; 34:109-113.
44. Pawlik A, Wrzesniewska J, Florczak M, et al. The -590 IL-4 promoter polymorphism in patients with rheumatoid arthritis. Rheumatol Int 2005; 26:48-51. A number of cytokine polymorphisms seem to be important in predicting a wide range of severe disease outcomes, including mortality.
45. Pawlik A, Florczak M, Ostanek L, et al. TNF-alpha-308 promoter polymorphism in patients with rheumatoid arthritis. Scand J Rheumatol 2005; 34:22-26.
46. Mattey DL, Nixon N, Dawes PT, et al. Association of polymorphism in the transforming growth factor beta 1 gene with disease outcome and mortality in rheumatoid arthritis. Ann Rheum Dis 2005; 64:1190-1194.
47. Joven B, Gonzalez N, Aguilar F, et al. Association between stromal cell-derived factor 1 chemokine gene variant and radiographic progression of rheumatoid arthritis. Arthr Rheum 2005; 52:354-356.
48. Rabinovich E, Livneh A, Langevitz P, et al. Severe disease in patients with rheumatoid arthritis carrying a mutation in the Mediterranean fever gene. Ann Rheum Dis 2005; 64:1009-1014.
49. Dervieux T, Furst D, Lein DO, et al. Pharmacogenetic and metabolite measurements are associated with clinical status in patients with rheumatoid arthritis treated with methotrexate: results of a multicentred cross sectional observational study. Ann Rheum Dis 2005; 64:1180-1185. A composite pharmacogenetic index comprising low penetrance genetic polymorphisms involved in methotrexate metabolism may usefully predict clinical response.
50. Berkun Y, Levartovsky D, Rubinow A, et al. Methotrexate related adverse effects in patients with rheumatoid arthritis are associated with the A1298C polymorphism of the MTHFR gene. Ann Rheum Dis 2004; 63:1227-1231.
51. Schmeling H, Biber D, Heins S, et al. Influence of methylenetetrahydrofolate reductase polymorphisms on efficacy and toxicity of methotrexate in patients with juvenile idiopathic arthritis. J Rheumatol 2005; 32:1832-1836.
52. Dervieux T, Kremer J, Lein DO, et al. Contribution of common polymorphisms in reduced folate carrier and gamma-glutamylhydrolase to methotrexate polyglutamate levels in patients with rheumatoid arthritis. Pharmacogenetics 2004; 14:733-739.
53. 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. Arthr Rheum 2004; 50:2750-2756. This study provides useful data on the possible genetic markers of etanercept response.
54. Kang CP, Lee KW, Yoo DH, et al. The influence of a polymorphism at position-857 of the tumour necrosis factor alpha gene on clinical response to etanercept therapy in rheumatoid arthritis. Rheumatology 2005; 44:547-552.
55. van Heel DA, Udalova IA, De Silva AP, et al. Inflammatory bowel disease is associated with a TNF polymorphism that affects an interaction between the OCT1 and NF(-kappa)B transcription factors. Hum Mol Genet 2002; 11:1281-1289.
56. Fonseca JE, Carvalho T, Cruz M, et al. Polymorphism at position -308 of the tumour necrosis factor alpha gene and rheumatoid arthritis pharmacogenetics. Ann Rheum Dis 2005; 64:793-794.
57. Camp NJ, Cox A, di Giovine FS, et al. Evidence of a pharmacogenomic response to interleukin-I receptor antagonist in rheumatoid arthritis. Genes Immun 2005; 6:467-471. This study provides evidence of a pharmacogenomic effect in the treatment of patients with recombinant IL-1 receptor antagonist.
58. Pawlik A, Wrzesniewska J, Fiedorowicz-Fabrycy I, et al. The MDR1 3435 polymorphism in patients with rheumatoid arthritis. Int J Clin Pharmacol Ther 2004; 42:496-503. Evidence linking a polymorphism in a drug efflux transporter with response to DMARD therapy and also to the activity of rheumatoid arthritis.
59. Altshuler D, Brooks LD, Chakravarti A, et al. A haplotype map of the human genome. Nature 2005; 437:1299-1320.
60. The Wellcome Trust Case Control Consortium. Press release: Researchers set to find 'genetic signposts' for eight diseases. http://ccc.sanger.ac.uk/ info/ 050928.shtml. [Released 28 September 2005]