A large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects

Annals of the Rheumatic Diseases

Volumn 70, Issue 12, 2011, Pages 2134-2139

  Terao, Chikashi ^a,b   Ohmura, Koichiro ^a   Kochi, Yuta ^c   Ikari, Katsunori ^d   Maruya, Etsuko ^e   Katayama, Masaki ^a   Shimada, Kota ^f   Murasawa, Akira ^g   Honjo, Shigeru ^h   Takasugi, Kiyoshi ⁱ   Matsuo, Keitaro ^j   Tajima, Kazuo ^j   Suzuki, Akari ^c   Yamamoto, Kazuhiko ^k   Momohara, Shigeki ^d   Yamanaka, Hisashi ^d   Yamada, Ryo ^b   Saji, Hiroo ^e   Matsuda, Fumihiko ^a,b,l   Mimori, Tsuneyo ^a  

^a KYOTO UNIVERSITY   (Japan)

^b KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c RIKEN   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e Japanese Red Cross Kanto Koshinetsu Block Blood Center   (Japan)

^f NATIONAL HOSPITAL ORGANIZATION   (Japan)

^g Niigata Rheumatic Center   (Japan)

^h Saiseikai Takaoka Hospital   (Japan)

ⁱ Dohgo Spa Hospital   (Japan)

^j AICHI CANCER CENTER HOSPITAL   (Japan)

^k UNIVERSITY OF TOKYO   (Japan)

^l JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CITRULLINATED PEPTIDE ANTIBODY; EPITOPE; HLA DR ANTIGEN; PEPTIDE ANTIBODY; UNCLASSIFIED DRUG;

ADULT; AGED; ALLELE; ARTICLE; CONTROLLED STUDY; DIPLOIDY; DISEASE ASSOCIATION; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HLA TYPING; HOMOZYGOSITY; HUMAN; JAPANESE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RHEUMATOID ARTHRITIS;

ADULT; AGED; ARTHRITIS, RHEUMATOID; AUTOANTIBODIES; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HISTOCOMPATIBILITY TESTING; HLA-DRB1 CHAINS; HUMANS; MALE; MIDDLE AGED; PEPTIDES, CYCLIC;

EID: 82755160838     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-200353     Document Type: Article

References (30)

1. Mok CC, Kwok CL, Ho LY, et al. Life expectancy, standardized mortality ratios, and causes of death in six rheumatic diseases in Hong Kong, China. Arthritis Rheum 2011;63:1182-9.
2. Firestein GS. Evolving concepts of rheumatoid arthritis. Nature 2003;423:356-61. (Pubitemid 40852711)
3. Deighton C M, Walker DJ, Griffiths ID, et al. The contribution of HLA to rheumatoid arthritis. Clin Genet 1989;36:178-82. (Pubitemid 19218460)
4. 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. (Pubitemid 18005792)
5. 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. (Pubitemid 30368225)
6. van Venrooij WJ, Hazes JM, Visser H. Anticitrullinated protein/peptide antibody and its role in the diagnosis and prognosis of early rheumatoid arthritis. Neth J Med 2002;60:383-8. (Pubitemid 39089354)
7. Ohmura K, Terao C, Maruya E, et al. Anti-citrullinated peptide antibody-negative RA is a genetically distinct subset: a definitive study using only bone-erosive ACPA-negative rheumatoid arthritis. Rheumatology (Oxford) 2010;49:2298-304.
8. 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. (Pubitemid 41612209)
9. Morgan AW, Thomson W, Martin SG, et al. Reevaluation of the interaction between HLA-DRB1 shared epitope alleles, PTPN22, and smoking in determining susceptibility to autoantibody-positive and autoantibody-negative rheumatoid arthritis in a large UK Caucasian population. Arthritis Rheum 2009;60:2565-76.
10. Kallberg H, Padyukov L, Plenge RM, et al. Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritis. Am J Hum Genet 2007;80:867-75. (Pubitemid 46668455)
11. Plenge RM, Padyukov L, Remmers EF, et al. Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet 2005;77:1044-60. (Pubitemid 41698524)
12. 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. (Pubitemid 41447086)
13. Lundström E, Källberg H, Smolnikova M, et al. Opposing effects of HLA-DRB1*13 alleles on the risk of developing anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis. Arthritis Rheum 2009;60:924-30.
14. van der Woude D, Lie BA, Lundström E, et al. Protection against anti-citrullinated protein antibody-positive rheumatoid arthritis is predominantly associated with HLA-DRB1*1301: a meta-analysis of HLA-DRB1 associations with anti-citrullinated protein antibody-positive and anti-citrullinated protein antibody-negative rheumatoid arthritis in four European populations. Arthritis Rheum 2010;62:1236-45.
15. 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. (Pubitemid 46851425)
16. 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.
17. 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. (Pubitemid 18091653)
18. Kamatani N, Sekine A, Kitamoto T, et al. Large-scale single-nucleotide polymorphism (SNP) and haplotype analyses, using dense SNP Maps, of 199 drug-related genes in 752 subjects: the analysis of the association between uncommon SNPs within haplotype blocks and the haplotypes constructed with haplotype-tagging SNPs. Am J Hum Genet 2004;75:190-203. (Pubitemid 38943863)
19. 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.
20. Rojas-Villarraga A, Botello-Corzo D, Anaya JM. HLA-Class II in Latin American patients with type 1 diabetes. Autoimmun Rev 2010;9:666-73.
21. Katahira M, Segawa S, Maeda H, et al. Effect of human leukocyte antigen class II genes on acute-onset and slow-onset type 1 diabetes in the Japanese population. Hum Immunol 2010;71:789-94.
22. Furuya T, Matsumoto I, Tsuchiya N, et al. Anti-glucose-6-phosphate isomerase, anti-cyclic citrullinated peptide antibodies and HLA-DRB1 genotypes in Japanese patients with early rheumatoid arthritis. Clin Exp Rheumatol 2008;26:918-21.
23. Bottini N, Musumeci L, Alonso A, et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004;36:337-8. (Pubitemid 38437254)
24. Gonzalez-Galarza FF, Christmas S, Middleton D, et al. Allele frequency net: a database and online repository for immune gene frequencies in worldwide populations. Nucleic Acids Res 2011;39 (Database issue): D913-9.
25. Katsuren E, Awata T, Matsumoto C, et al. HLA class II alleles in Japanese patients with Graves' disease: weak associations of HLA-DR and -DQ. Endocr J 1994;41:599-603.
26. de Vries N, Tijssen H, van Riel PL, et al. 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;46:921-8. (Pubitemid 34303803)
27. van der Helm-van Mil AH, Huizinga TW, Schreuder GM, et al. An independent role of protective HLA class II alleles in rheumatoid arthritis severity and susceptibility. Arthritis Rheum 2005;52:2637-44. (Pubitemid 41369091)
28. Smerdel A, Ploski R, Flatø B, et al. Juvenile idiopathic arthritis (JIA) is primarily associated with HLA-DR8 but not DQ4 on the DR8-DQ4 haplotype. Ann Rheum Dis 2002;61:354-7. (Pubitemid 34257749)
29. Queiro-Silva R, Torre-Alonso JC, Tinturé-Eguren T, et al. The effect of HLA-DR antigens on the susceptibility to, and clinical expression of psoriatic arthritis. Scand J Rheumatol 2004;33:318-22. (Pubitemid 39421215)
30. Okada Y, Suzuki A, Yamada R, et al. HLA-DRB1*0901 lowers anti-cyclic citrullinated peptide antibody levels in Japanese patients with rheumatoid arthritis. Ann Rheum Dis 2010;69:1569-70.