Associations between six classical HLA loci and rheumatoid arthritis: A comprehensive analysis

Tissue Antigens

Volumn 80, Issue 1, 2012, Pages 16-25

  Mitsunaga, S ^a   Suzuki, Y ^a   Kuwana, M ^b   Sato, S ^a   Kaneko, Y ^b   Homma, Y ^a   Narita, A ^a   Kashiwase, K ^c   Okudaira, Y ^a   Inoue, I ^a,d   Kulski, J K ^a,e   Inoko, H ^a  

^a TOKAI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c Tokyo Red Cross Blood Center   (Japan)

^d NATIONAL INSTITUTE OF GENETICS   (Japan)

^e UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Association study; Bone erosion; HLA haplotypes; HLA DPB1; Rheumatoid arthritis

Indexed keywords

CYCLIC CITRULLINATED PEPTIDE ANTIBODY; HLA A ANTIGEN; HLA B ANTIGEN; HLA C ANTIGEN; HLA DPB1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN;

ALLELE; ARTICLE; CONTROLLED STUDY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENE LOCUS; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS;

ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY TESTING; HLA ANTIGENS; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC;

EID: 84861699000     PISSN: 00012815     EISSN: 13990039     Source Type: Journal    
DOI: 10.1111/j.1399-0039.2012.01872.x     Document Type: Article

References (49)

1. Silman AJ, MacGregor AJ, Thomson W et al. Twin concordance rates for rheumatoid arthritis: results from a nationwide study. Br J Rheumatol 1993: 32: 903-7.
2. Wandstrat A, Wakeland E. The genetics of complex autoimmune diseases: non-MHC susceptibility genes. Nat Immunol 2001: 2: 802-9.
3. Welcome 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.
4. Wellcome Trust Case Control Consortium, Craddock N, Hurles ME et al. Genome-wide association study of CNVs in 16, 000 cases of eight common diseases and 3, 000 shared controls. Nature 2010: 464: 713-20.
5. de Vries R. Genetics of rheumatoid arthritis: time for a change! Curr Opin Rheumatol 2011: 23: 227-32.
6. Raychaudhuri S, Thomson BP, Remmers EF et al. Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet 2008: 40: 1216-23.
7. Asimit J, Zeggini E. Testing for rare variant associations in complex diseases. Genome Med 2011: 3: 24-6.
8. Zuk O, Hechter E, Sunyaev SR, Lander ES. The mystery of missing heritability: genetic interactions create phantom heritability. Proc Natl Acad Sci U S A 2012: [Epub ahead of print January 5].
9. MacGregor AJ, Snieder H, Rigby AS et al. Characterizing the quantitative genetic contribution to rheumatoid arthritis using data from twins. Arthritis Rheum 2000: 43: 30-7.
10. Newton JL, Harney SM, Wordsworth BP, Brown MA. A review of the MHC genetics of rheumatoid arthritis. Genes Immun 2004: 5: 151-7.
11. 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: 1205-13.
12. 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. Arthritis Rheum 2005: 52: 1063-8.
13. Gorman JD, Lum RF, Chen JJ, Suarez-Almazor ME, Thomson G, Criswell LA. Impact of shared epitope genotype and ethnicity on erosive disease: a metaanalysis of 3, 240 rheumatoid arthritis patients. Arthritis Rheum 2004: 50: 400-12.
14. Yan Z, Ferucci ED, Geraghty DE et al. Resequencing of the human major histocompatibility complex in patients with rheumatoid arthritis and healthy controls in Alaska Natives of Southeast Alaska. Tissue Antigens 2007: 70: 487-94.
15. Harney SM, Vilariño-Güell C, Adamopoulos IE et al. Fine mapping of the MHC class III region demonstrates association of AIF1 and rheumatoid arthritis. Rheumatology (Oxford) 2008: 47: 1761-7.
16. Ota M, Katsuyama 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: 263-70.
17. Lin CH, Cho CL, Tsai WC et al. Inhibitors of kB-like gene polymorphisms in rheumatoid arthritis. Immunol Lett 2006: 105: 193-7.
18. Tamiya G, Shinya M, Imanishi T et al. Whole genome association study of rheumatoid arthritis using 27 039 microsatellites. Hum Mol Genet 2005: 14: 2305-21.
19. 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: 438-42.
20. 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: 2698-704.
21. Yang HC, Liang YJ, Chung CM, Chen JW, Pan WH. Genome-wide gene-based association study. BMC Proc 2009: 3(Suppl 7): S135.
22. Ando K, Kanazawa S, Tetsuka T et al. Induction of Notch signaling by tumor necrosis factor in rheumatoid synovial fibroblasts. Oncogene 2003: 22: 7796-803.
23. The MHC Sequencing Consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature 1999: 401: 921-3.
24. Schellekens GA, Visser H, de Jong BA et al. The diagnostic properties of rheumatoid arthritis antibodies recognizing a cyclic citrullinated peptide. Arthritis Rheum 2000: 43: 155-63.
25. Van der Helm-van Mil AH, Verpoort KN, Breedveld FC, Huizinga TW, Toes RE, de Vries RR. The HLA-DRB1 shared epitope alleles are primarily a risk factor for anti-cyclic citrullinated peptide antibodies and are not an independent risk factor for development of rheumatoid arthritis. Arthritis Rheum 2006: 54: 1117-21.
26. Arnett FC, Edworthy SM, Bloch DA et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988: 31: 315-24.
27. Ochi T, Iwase R, Yonemasu K et al. Natural course of joint destruction and fluctuation of serum C1q levels in patients with rheumatoid arthritis. Arthritis Rheum 1988: 31: 37-43.
28. Stephens M, Donnelly P. A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 2003: 73: 1162-9.
29. Kaltenhäuser S, Pierer M, Arnold S et al. Antibodies against cyclic citrullinated peptide are associated with the DRB1 shared epitope and predict joint erosion in rheumatoid arthritis. Rheumatology (Oxford) 2007: 46: 100-4.
30. Verpoort 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: 3058-62.
31. Furuya T, Hakoda M, Ichikawa N et al. Differential association of HLA-DRB1 alleles in Japanese patients with early rheumatoid arthritis in relationship to autoantibodies to cyclic citrullinated peptide. Clin Exp Rheumatol 2007: 25: 219-24.
32. Terao C, Ohmura K, Kochi Y et al. Large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects. Ann Rheum Dis 2011: 70: 2134-9.
33. 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: 3433-8.
34. Lee HS, Lee KW, Song GG, Kim HA, Kim SY, Bae SC. Increased susceptibility to rheumatoid arthritis in Koreans heterozygous for HLA-DRB1*0405 and *0901. Arthritis Rheum 2004: 50: 3468-75.
35. Benazet JF, Reviron D, Mercier P, Roux H, Roudier J. HLA-DRB1 alleles associated with rheumatoid arthritis in southern France. Absence of extraarticular disease despite expression of the shared epitope. J Rheumatol 1995: 22: 607-10.
36. Mody GM, Meyers OL. Resorptive arthroplasty in rheumatoid arthritis. J Rheumatol 1988: 15: 1075-7.
37. Van der Helm-van Mil AH, Verpoort KN, Breedveld FC, Toes RE, Huizinga TW. Antibodies to citrullinated proteins and differences in clinical progression of rheumatoid arthritis. Arthritis Res Ther 2005: 7: R949-58.
38. Bukhari M, Thomson W, Naseem H et al. The performance of anti-cyclic citrullinated peptide antibodies in predicting the severity of radiologic damage in inflammatory polyarthritis: results from the Norfolk Arthritis Register. Arthritis Rheum 2007: 56: 2929-35.
39. Wakitani S, Murata N, Toda Y et al. The relationship between HLA-DRB1 alleles and disease subsets of rheumatoid arthritis in Japanese. Br J Rheumatol 1997: 36: 630-6.
40. Qian Z, Latham KA, Whittington KB, Miller DC, Brand DD, Rosloniec EF. An autoantigen-specific, highly restricted T cell repertoire infiltrates the arthritic joints of mice in an HLA-DR1 humanized mouse model of autoimmune arthritis. J Immunol 2010: 185: 110-8.
41. Kim HY, Kim WU, Cho ML et al. Enhanced T cell proliferative response to type II collagen and synthetic peptide CII (255-274) in patients with rheumatoid arthritis. Arthritis Rheum 1999: 42: 2085-93.
42. Rosloniec EF, Ivey RA III, Whittington KB, Kang AH, Park HW. Crystallographic structure of a rheumatoid arthritis MHC susceptibility allele, HLA-DR1 (DRB1*0101), complexed with the immunodominant determinant of human type II collagen. J Immunol 2006: 177: 3884-92.
43. Ding B, Padyukov L, Lundström E et al. 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: 30-8.
44. Orozco G, Barton A, Eyre S et al. HLA-DPB1-COL11A2 and three additional xMHC loci are independently associated with RA in a UK cohort. Genes Immun 2011: 12: 169-75.
45. Raychaudhuri S, Sandor C, Stahl EA et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat Genet 2012: 44: 291-6.
46. Ploski R, McDowell TL, Symons JA et al. Interaction between HLA-DR and HLA-DP, and Between HLA and interleukin 1α in juvenile rheumatoid arthritis indicates heterogeneity of pathogenic mechanisms of the disease. Hum Immunol 1995: 42: 343-7.
47. Kirsten H, Petit-Teixeira E, Scholz M et al. Association of MICA with rheumatoid arthritis independent of known HLA-DRB1 risk alleles in a family-based and a case control study. Arthritis Res Ther 2009: 11: R60.
48. Vignal C, Bansal AT, Balding DJ et al. Genetic association of the major histocompatibility complex with rheumatoid arthritis implicates two non-DRB1 loci. Arthritis Rheum 2009: 60: 53-62.
49. 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: 319-25.