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RIKEN Center for Integrative Medical Sciences Laboratory for Autoimmune Diseases

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

Research Summary

Kazuhiko  Yamamoto(M.D., Ph.D)

Autoimmune diseases such as rheumatoid arthritis (RA) are 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 Fields

  • Medicine, Dentistry & Pharmacy

Related Research Fields

  • Complex Systems
  • Biology

Keywords

  • Genome-wide association study
  • Functional genomics
  • eQTL
  • Human immunology
  • Autoimmune diseases

Selected Publications

  • 1. Oguchi A, Suzuki A, Komatsu S, Yoshitomi H, et al.: ITEC Consortium Members.
    "An atlas of transcribed enhancers across helper T cell diversity for decoding human diseases."
    Science, 385(6704):eadd8394(2024)
  • 2. Nakano M, Ota M, Takeshima Y, et al.:
    "Distinct transcriptome architectures underlying lupus establishment and exacerbation".
    Cell, 185(18), 3375-3389.e21(2022)
  • 3. Ota M, Nagafuchi Y, Hatano H, et al.:
    "Dynamic landscape of immune cell-specific gene regulation in immune-mediated diseases".
    Cell, 184(11), 3006-3021.e17(2021)
  • 4. Ishigaki, K., Kochi, Y., Suzuki, A., Yamaguchi, K., ,Yamamoto, K et al.:
    "Polygenic burdens on cell-specific pathways underlie the risk of rheumatoid arthritis" 
    Nature Genetics.49, 1120-1125 (2017)
  • 5. Okada Y, Wu D, Trynka G, Raj T, et al.:
    "Genetics of rheumatoid arthritis contributes to biology and drug discovery"
    Nature ,506 (7488), 376-381 (2014)
  • 6. 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)
  • 7. 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)
  • 8. 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)
  • 9. 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)
  • 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)

Recent Research Results

Related Links

Lab Members

Principal investigator

Kazuhiko Yamamoto
Team Leader

Core members

Akari Suzuki
Senior Research Scientist
Matteo Maurizio Guerrini
Research Scientist
Anunya Opasawatchai
Research Scientist
Keiko Myouzen
Senior Technical Staff
Gyo Inoue
Senior Technical Staff
Miwako Tochigi
Technical Staff I
Kyoko Kobayasi
Technical Staff II
Mai Abe
Technical Staff II
Kana Kuwahara
Technical Staff II

Contact Information

East Research Building E508,
1-7-22 Suehiro-cho, Tsurumi-ku,
Yokohama City, Kanagawa,
230-0045, Japan
Email: kazuhiko.yamamoto@riken.jp

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