Contribution of a Non-classical HLA Gene, HLA-DOA, to the Risk of Rheumatoid Arthritis

American Journal of Human Genetics

Volumn 99, Issue 2, 2016, Pages 366-374

  Okada, Yukinori ^a,b,c   Suzuki, Akari ^b   Ikari, Katsunori ^d,e   Terao, Chikashi ^f,g,h,i   Kochi, Yuta ^b,e   Ohmura, Koichiro ^h   Higasa, Koichiro ^h   Akiyama, Masato ^b   Ashikawa, Kyota ^b   Kanai, Masahiro ^a,b   Hirata, Jun ^a,j   Suita, Naomasa ^a,k   Teo, Yik Ying ^l   Xu, Huji ^m   Bae, Sang Cheol ⁿ   Takahashi, Atsushi ^b   Momozawa, Yukihide ^b   Matsuda, Koichi ^o   Momohara, Shigeki ^d   Taniguchi, Atsuo ^d   Yamada, Ryo ^h   Mimori, Tsuneyo ^h   Kubo, Michiaki ^b   Brown, Matthew A ^p   Raychaudhuri, Soumya ^f,g,q,r   Matsuda, Fumihiko ^h   Yamanaka, Hisashi ^d   Kamatani, Yoichiro ^b   Yamamoto, Kazuhiko ^b,s   more..

^a TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^b Institute of Physical and Chemical Research   (Japan)

^c OSAKA UNIVERSITY   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h KYOTO UNIVERSITY   (Japan)

ⁱ KYOTO UNIVERSITY   (Japan)

^j TEIJIN PHARMA LIMITED   (Japan)

^k ONO PHARMACEUTICAL CO   (Japan)

^l NATIONAL UNIVERSITY OF SINGAPORE   (Singapore)

^m SECOND MILITARY MEDICAL UNIVERSITY   (China)

ⁿ Hanyang University Hospital for Rheumatic Diseases   (South Korea)

^o UNIVERSITY OF TOKYO   (Japan)

^p UNIVERSITY OF QUEENSLAND   (Australia)

^q LABORATORY FOR MOLECULAR MEDICINE   (United States)

^r UNIVERSITY OF MANCHESTER   (United Kingdom)

^s UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; CYCLIC CITRULLINATED PEPTIDE ANTIBODY; HLA A ANTIGEN; HLA ANTIGEN CLASS 2; HLA B ANTIGEN; HLA C ANTIGEN; HLA DO ANTIGEN; HLA DOA ANTIGEN; HLA DPA1 ANTIGEN; HLA DPB1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; UNCLASSIFIED DRUG; AUTOANTIBODY; CITRULLINE; HLA D ANTIGEN;

ALLELE; ANTIGEN EXPRESSION; ARTICLE; CHROMOSOME 6; CONTROLLED STUDY; EAST ASIAN; ETHNIC DIFFERENCE; EUROPEAN; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOTYPE; HLA SYSTEM; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; RHEUMATOID ARTHRITIS; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CAUCASIAN; ETHNIC GROUP; ETHNOLOGY; EUROPE; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; JAPAN; VALIDATION STUDY;

ARTHRITIS, RHEUMATOID; ASIAN CONTINENTAL ANCESTRY GROUP; AUTOANTIBODIES; CITRULLINE; ETHNIC GROUPS; EUROPE; EUROPEAN CONTINENTAL ANCESTRY GROUP; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HLA-D ANTIGENS; HLA-DRB1 CHAINS; HUMANS; JAPAN; LINKAGE DISEQUILIBRIUM; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84994175707     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.06.019     Document Type: Article

References (37)

1. 1 Neogi, T., Aletaha, D., Silman, A.J., Naden, R.L., Felson, D.T., Aggarwal, R., Bingham, C.O. 3rd, Birnbaum, N.S., Burmester, G.R., Bykerk, V.P., et al. American College of Rheumatology, European League Against Rheumatism. The 2010 American College of Rheumatology/European League Against Rheumatism classification criteria for rheumatoid arthritis: Phase 2 methodological report. Arthritis Rheum. 62 (2010), 2582–2591.
2. 2 Yamamoto, K., Okada, Y., Suzuki, A., Kochi, Y., Genetic studies of rheumatoid arthritis. Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci. 91 (2015), 410–422.
3. 3 Terao, C., Ikari, K., Nakayamada, S., Takahashi, Y., Yamada, R., Ohmura, K., Hashimoto, M., Furu, M., Ito, H., Fujii, T., et al. A twin study of rheumatoid arthritis in the Japanese population. Mod. Rheumatol. 4 (2016), 1–5.
4. 4 Gregersen, P.K., Silver, J., Winchester, R.J., The shared epitope hypothesis. An approach to understanding the molecular genetics of susceptibility to rheumatoid arthritis. Arthritis Rheum. 30 (1987), 1205–1213.
5. ∗0901 lowers anti-cyclic citrullinated peptide antibody levels in Japanese patients with rheumatoid arthritis. Ann. Rheum. Dis. 69 (2010), 1569–1570.
6. 6 Terao, C., Ohmura, K., Kochi, Y., Ikari, K., Maruya, E., Katayama, M., Shimada, K., Murasawa, A., Honjo, S., Takasugi, K., et al. A large-scale association study identified multiple HLA-DRB1 alleles associated with ACPA-negative rheumatoid arthritis in Japanese subjects. Ann. Rheum. Dis. 70 (2011), 2134–2139.
7. 7 Raychaudhuri, S., Sandor, C., Stahl, E.A., Freudenberg, J., Lee, H.S., Jia, X., Alfredsson, L., Padyukov, L., Klareskog, L., Worthington, J., et al. Five amino acids in three HLA proteins explain most of the association between MHC and seropositive rheumatoid arthritis. Nat. Genet. 44 (2012), 291–296.
8. 8 Han, B., Diogo, D., Eyre, S., Kallberg, H., Zhernakova, A., Bowes, J., Padyukov, L., Okada, Y., González-Gay, M.A., Rantapää-Dahlqvist, S., et al. Fine mapping seronegative and seropositive rheumatoid arthritis to shared and distinct HLA alleles by adjusting for the effects of heterogeneity. Am. J. Hum. Genet. 94 (2014), 522–532.
9. ∗09:01 allele on disease phenotypes. Rheumatology (Oxford) 52 (2013), 1172–1182.
10. 10 Okada, Y., Kim, K., Han, B., Pillai, N.E., Ong, R.T.H., Saw, W.Y., Luo, M., Jiang, L., Yin, J., Bang, S.Y., et al. Risk for ACPA-positive rheumatoid arthritis is driven by shared HLA amino acid polymorphisms in Asian and European populations. Hum. Mol. Genet. 23 (2014), 6916–6926.
11. 11 Terao, C., Suzuki, A., Ikari, K., Kochi, Y., Ohmura, K., Katayama, M., Nakabo, S., Yamamoto, N., Suzuki, T., Iwamoto, T., et al. An association between amino acid position 74 of HLA-DRB1 and anti-citrullinated protein antibody levels in Japanese patients with anti-citrullinated protein antibody-positive rheumatoid arthritis. Arthritis Rheumatol. 67 (2015), 2038–2045.
12. ∗09:01. Ann. Rheum. Dis. 71 (2012), 1095–1097.
13. 13 Okada, Y., Yamada, R., Suzuki, A., Kochi, Y., Shimane, K., Myouzen, K., Kubo, M., Nakamura, Y., Yamamoto, K., Contribution of a haplotype in the HLA region to anti-cyclic citrullinated peptide antibody positivity in rheumatoid arthritis, independently of HLA-DRB1. Arthritis Rheum. 60 (2009), 3582–3590.
14. 14 The International HIV Controllers Study. The major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 330 (2010), 1551–1557.
15. 15 Jia, X., Han, B., Onengut-Gumuscu, S., Chen, W.M., Concannon, P.J., Rich, S.S., Raychaudhuri, S., de Bakker, P.I., Imputing amino acid polymorphisms in human leukocyte antigens. PLoS ONE, 8, 2013, e64683.
16. 16 The MHC sequencing consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature 401 (1999), 921–923.
17. 17 Kochi, Y., Yamada, R., Kobayashi, K., Takahashi, A., Suzuki, A., Sekine, A., Mabuchi, A., Akiyama, F., Tsunoda, T., Nakamura, Y., Yamamoto, K., Analysis of single-nucleotide polymorphisms in Japanese rheumatoid arthritis patients shows additional susceptibility markers besides the classic shared epitope susceptibility sequences. Arthritis Rheum. 50 (2004), 63–71.
18. 18 Mitsunaga, S., Hosomichi, K., Okudaira, Y., Nakaoka, H., Kunii, N., Suzuki, Y., Kuwana, M., Sato, S., Kaneko, Y., Homma, Y., et al. Exome sequencing identifies novel rheumatoid arthritis-susceptible variants in the BTNL2. J. Hum. Genet. 58 (2013), 210–215.
19. 19 Jiang, L., Yin, J., Ye, L., Yang, J., Hemani, G., Liu, A.J., Zou, H., He, D., Sun, L., Zeng, X., et al. Novel risk loci for rheumatoid arthritis in Han Chinese and congruence with risk variants in Europeans. Arthritis Rheumatol. 66 (2014), 1121–1132.
20. 20 Okada, Y., Momozawa, Y., Ashikawa, K., Kanai, M., Matsuda, K., Kamatani, Y., Takahashi, A., Kubo, M., Construction of a population-specific HLA imputation reference panel and its application to Graves’ disease risk in Japanese. Nat. Genet. 47 (2015), 798–802.
21. 21 Okada, Y., Wu, D., Trynka, G., Raj, T., Terao, C., Ikari, K., Kochi, Y., Ohmura, K., Suzuki, A., Yoshida, S., et al. RACI consortium, GARNET consortium. Genetics of rheumatoid arthritis contributes to biology and drug discovery. Nature 506 (2014), 376–381.
22. 22 Arnett, F.C., Edworthy, S.M., Bloch, D.A., McShane, D.J., Fries, J.F., Cooper, N.S., Healey, L.A., Kaplan, S.R., Liang, M.H., Luthra, H.S., et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum. 31 (1988), 315–324.
23. 23 Okada, Y., Han, B., Tsoi, L.C., Stuart, P.E., Ellinghaus, E., Tejasvi, T., Chandran, V., Pellett, F., Pollock, R., Bowcock, A.M., et al. Fine mapping major histocompatibility complex associations in psoriasis and its clinical subtypes. Am. J. Hum. Genet. 95 (2014), 162–172.
24. 24 Lenz, T.L., Deutsch, A.J., Han, B., Hu, X., Okada, Y., Eyre, S., Knapp, M., Zhernakova, A., Huizinga, T.W., Abecasis, G., et al. Widespread non-additive and interaction effects within HLA loci modulate the risk of autoimmune diseases. Nat. Genet. 47 (2015), 1085–1090.
25. 25 Narahara, M., Higasa, K., Nakamura, S., Tabara, Y., Kawaguchi, T., Ishii, M., Matsubara, K., Matsuda, F., Yamada, R., Large-scale East-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS ONE, 9, 2014, e100924.
26. 26 Westra, H.J., Peters, M.J., Esko, T., Yaghootkar, H., Schurmann, C., Kettunen, J., Christiansen, M.W., Fairfax, B.P., Schramm, K., Powell, J.E., et al. Systematic identification of trans eQTLs as putative drivers of known disease associations. Nat. Genet. 45 (2013), 1238–1243.
27. 27 Forrest, A.R., Kawaji, H., Rehli, M., Baillie, J.K., de Hoon, M.J., Haberle, V., Lassmann, T., Kulakovskiy, I.V., Lizio, M., Itoh, M., et al., FANTOM Consortium and the RIKEN PMI and CLST (DGT). A promoter-level mammalian expression atlas. Nature 507 (2014), 462–470.
28. 28 Pillai, N.E., Okada, Y., Saw, W.Y., Ong, R.T., Wang, X., Tantoso, E., Xu, W., Peterson, T.A., Bielawny, T., Ali, M., et al. Predicting HLA alleles from high-resolution SNP data in three Southeast Asian populations. Hum. Mol. Genet. 23 (2014), 4443–4451.
29. 29 Cortes, A., Pulit, S.L., Leo, P.J., Pointon, J.J., Robinson, P.C., Weisman, M.H., Ward, M., Gensler, L.S., Zhou, X., Garchon, H.J., et al. Major histocompatibility complex associations of ankylosing spondylitis are complex and involve further epistasis with ERAP1. Nat. Commun., 6, 2015, 7146.
30. ∗40:02-restricted T cells possessing cytotoxic and suppressive functions against haematopoietic progenitor cells from a patient with severe aplastic anaemia. Br. J. Haematol. 172 (2016), 131–134.
31. ∗5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir. Lancet 359 (2002), 727–732.
32. 32 Anderson, R.P., Henry, M.J., Taylor, R., Duncan, E.L., Danoy, P., Costa, M.J., Addison, K., Tye-Din, J.A., Kotowicz, M.A., Knight, R.E., et al. A novel serogenetic approach determines the community prevalence of celiac disease and informs improved diagnostic pathways. BMC Med., 11, 2013, 188.
33. ∗. Tissue Antigens 66 (2005), 242–245.
34. 34 Guce, A.I., Mortimer, S.E., Yoon, T., Painter, C.A., Jiang, W., Mellins, E.D., Stern, L.J., HLA-DO acts as a substrate mimic to inhibit HLA-DM by a competitive mechanism. Nat. Struct. Mol. Biol. 20 (2013), 90–98.
35. 35 Yi, W., Seth, N.P., Martillotti, T., Wucherpfennig, K.W., Sant'Angelo, D.B., Denzin, L.K., Targeted regulation of self-peptide presentation prevents type I diabetes in mice without disrupting general immunocompetence. J. Clin. Invest. 120 (2010), 1324–1336.
36. 36 Gu, Y., Jensen, P.E., Chen, X., Immunodeficiency and autoimmunity in H2-O-deficient mice. J. Immunol. 190 (2013), 126–137.
37. 37 Hosomichi, K., Shiina, T., Tajima, A., Inoue, I., The impact of next-generation sequencing technologies on HLA research. J. Hum. Genet. 60 (2015), 665–673.