RIKEN Center for Integrative Medical Sciences Laboratory for Autoimmune Diseases
Team Leader: Kazuhiko Yamamoto (M.D., Ph.D)
Research Summary

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
Aug. 18, 2017
Mapping disease genes to immune cells
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