Centers & Labs

RIKEN Center for Integrative Medical Sciences

Laboratory for Autoimmune Diseases

Team Leader: Kazuhiko Yamamoto (M.D., Ph.D)
Kazuhiko  Yamamoto(M.D., Ph.D)

Autoimmune diseases such as rheumatoid arthritis (RA) are considered to be complex multi-genetic diseases. We have reported multiple RA-associated genes including PADI4, FCRL3, CD244, CCR6 and RTKN2 and SLE-associated genes including AFF1 by genome-wide association studies. We have also studied how these genes are involved in the disease pathogenesis by using molecular biology and animal disease models. Moreover, we are investigating individual’s immune function by genome and transcriptome analysis (eQTL analysis) of human immune cells to dissect their role in the diseases.

Main Research Field

Molecular Biology & Genetics

Related Research Fields

Immunology / Clinical Medicine

Research Subjects

  • Genome-wide association study for rheumatoid arthritis
  • Genome-wide association study for systemic lupus erythematosus
  • Genome and transcriptome analysis of human immune cells
  • Functional analysis of rheumatoid arthritis-associated genes, PADI4, FCRL3, CD244 and RTKN2

Selected Publications

  1. Sun, C, Molineros, JE, Looger, LL et al.:
    “High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry.”
    Nature Genetics, in press (2016)
  2. Okada Y, Wu D, Trynka G, Raj T, Terao C, Ikari K, Kochi Y, Ohmura K, Suzuki A, Yoshida S, Graham RR, Manoharan A, Ortmann W, Bhangale T, Denny JC, Carroll RJ, Eyler AE, Greenberg JD, Kremer JM, Pappas DA, Jiang L, Yin J, Ye L, Su DF, Yang J, Xie G, Keystone E, Westra HJ, Esko T, Metspalu A, Zhou X, Gupta N, Mirel D, Stahl EA, Diogo D, Cui J, Liao K, Guo MH, Myouzen K, Kawaguchi T, Coenen MJ, van Riel PL, van de Laar MA, Guchelaar HJ, Huizinga TW, Dieudé P, Mariette X, Bridges SL Jr, Zhernakova A, Toes RE, Tak PP, Miceli-Richard C, Bang SY, Lee HS, Martin J, Gonzalez-Gay MA, Rodriguez-Rodriguez L, Rantapää-Dahlqvist S, Arlestig L, Choi HK, Kamatani Y, Galan P, Lathrop M; RACI consortium; GARNET consortium, Eyre S, Bowes J, Barton A, de Vries N, Moreland LW, Criswell LA, Karlson EW, Taniguchi A, Yamada R, Kubo M, Liu JS, Bae SC, Worthington J, Padyukov L, Klareskog L, Gregersen PK, Raychaudhuri S, Stranger BE, De Jager PL, Franke L, Visscher PM, Brown MA, Yamanaka H, Mimori T, Takahashi A, Xu H, Behrens TW, Siminovitch KA, Momohara S, Matsuda F, Yamamoto K, Plenge RM.:
    “Genetics of rheumatoid arthritis contributes to biology and drug discovery”
    Nature ,506 (7488), 376-381 (2014)
  3. Okada, Y, Terao, C, Yamamoto, K, et al.:
    “Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.”
    Nature Genetics, 44 (5): 511-6 (2012)
  4. Okada, Y, Shimane, K, Yamamoto, K, et al.:
    “A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Erythematosus in Japanese”
    Plos Genetics, 8(1):e1002455 (2012)
  5. Kochi, Y, Okada, Y, Suzuki, A, et al.:
    “A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.”
    Nature Genetics, 42 (6): 515-9 (2010)
  6. Shimane, K, Kochi, Y, Yamamoto, K., et al.:
    “A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.”
    Annals of Rheumatic Diseases, 68(3), 377-383 (2009)
  7. Suzuki, A, Yamada, R, Yamamoto, K., et al.:
    “Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.”
    Nature Genetics, 40(10), 1224-1229 (2008)
  8. Kochi Y, Yamada, R, Yamamoto, K., et al.:
    “A functional variant in FCRL3, encoding Fc receptor-like 3, is associated with rheumatoid arthritis and several autoimmunities.”
    Nature Genetics, 37(5), 478-485 (2005)
  9. Tokuhiro, S., Yamada, S., Yamamoto, K., et al.:
    “An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis”
    Nature Genetics, 35(4), 341-348 (2003)
  10. Suzuki, A., Yamada, R., Yamamoto, K., et al.:
    “Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis”
    Nature Genetics, 34(4), 395-402 (2003)

Lab Members

Principal Investigator

Kazuhiko Yamamoto
Team Leader

Core Members

Akari Suzuki
Deputy Team Leader
Keiko Myouzen
Research Associate
Kensuke Yamaguchi
Junior Research Associate
Kyoko Kobayasi
Technical Staff II
Mai Abe
Technical Staff II

Contact information

E508,
1-7-22 Suehiro-cho, Tsurumi-ku,
Yokohama City, Kanagawa,
230-0045, Japan

Email: kazuhiko.yamamoto [at] riken.jp

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