RIKEN Center for Integrative Medical Sciences Laboratory for Bone and Joint Diseases
Team Leader: Shiro Ikegawa (M.D., Ph.D)
Research Summary

We are studying genetic factors of the locomotive system, in particular, of bone and joint. The main feature of our lab is to study monogenic and polygenic diseases simultaneously and comprehensively by starting from human diseases. There are many intractable diseases in the monogenic diseases of the locomotive system, including skeletal dysplasia. We have discovered 25 disease genes so far. The polygenic diseases of the locomotive system include osteoarthritis osteoporosis and disc degeneration. We are tackling on development of innovative methods of diagnosis and treatment of the diseases based on identification of their susceptibility genes. Through the analysis of the genes, we are trying to clarify the mechanism of growth and development of the locomotive system.
Main Research Fields
- Medicine, Dentistry & Pharmacy
Related Research Fields
- Biological Sciences
Keywords
- Bone and joint disease
- genome
- Association study
- Genetic disease
- Intractable disease
Selected Publications
Papers with an asterisk(*) are based on research conducted outside of RIKEN.
- 1.Nakajima M, Takahashi A, Tsuji T, Karasugi T, Baba H, Uchida K, Kawabata S, Okawa A, Shindo S, Takeuchi K, Taniguchi Y, Maeda S, Kashii M, Seichi A, Nakajima H, Kawaguchi Y, Fujibayashi S, Takahata M, Tanaka T, Watanabe K, Kida K, Kanchiku T, Ito Z, Mori K, Kaito T, Kobayashi S, Yamada K, Takahashi M, Chiba K, Matsumoto M, Furukawa KI, Kubo M, Toyama Y;Genetic Study Group of Investigation Committee on Ossification of the Spinal Ligaments, Ikegawa S.:
"A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine."
Nat Genet 46(9):1012-6, 2014. - 2.Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, Dai J, Qiu X, Sharma S, Takimoto A, Ogura Y, Jiang H, Yan H, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Hosono N, Tsuji T, Suzuki T, Sudo H, Kotani T, Yonezawa I, Londono D, Gordon D, Herring JA, Watanabe K, Chiba K, Kamatani N, Jiang Q, Hiraki Y, Kubo M, Toyama Y, Tsunoda T, Wise CA, Qiu Y, Shukunami C, Matsumoto M, and Ikegawa S.:
"Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis."
Nat Genet 45(6), 676-9 (2013) - 3.Takahashi Y, Kou I, Takahashi A, Johnson TA, Kono K, Kawakami N, Uno K, Ito M, Minami S, Yanagida H, Taneichi H, Tsuji T, Suzuki T, Sudo H, Kotani T, Watanabe K, Chiba K, Hosono N, Kamatani N, Tsunoda T, Toyama Y, Kubo M, Matsumoto M, and Ikegawa S.:
"A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis."
Nat Genet 43(12), 1237-40 (2011) - 4.Miyamoto Y, Shi D, Nakajima M, Ozaki K, Sudo A, Kotani A, Uchida A, Tanaka T, Fukui N, Tsunoda T, Takahashi A, Nakamura Y, Jiang Q, and Ikegawa S.:
"Common variants in DVWA on chromosome 3p24.3 are associated with susceptibility to knee osteoarthritis."
Nat Genet 40(8), 994-8 (2008) - 5.Hiraoka S, Furuichi T, Nishimura G, Shibata S, Yanagishita M, Rimoin DL, Superti-Furga A, Nikkels PG, Ogawa M, Katsuyama K, Toyoda H, Kinoshita-Toyoda A, Ishida N, Isono K, Sanai Y, Cohn DH, Koseki H, and Ikegawa S.:
"Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human."
Nat Med 13(11), 1363-7 (2007) - 6.Miyamoto Y, Mabuchi A, Shi D, Kubo T, Takatori Y, Saito S, Fujioka M, Sudo A, Uchida A, Yamamoto S, Ozaki K, Takigawa M, Tanaka T, Nakamura Y, Jiang Q, and Ikegawa S.:
"A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis."
Nat Genet 39(4), 529-33 (2007) - 7.Seki S, Kawaguchi Y, Chiba K, Mikami Y, Kizawa H, Oya T, Mio F, Mori M, Miyamoto Y, Masuda I, Tsunoda T, Kamata M, Kubo T, Toyama Y, Kimura T, Nakamura Y, and Ikegawa S.:
"A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease."
Nat Genet 37(6), 607-12 (2005) - 8.Kizawa H, Kou I, Iida A, Sudo A, Miyamoto Y, Fukuda A, Mabuchi A, Kotani A, Kawakami A, Yamamoto S, Uchida N, Nakamura K, Notoya K, Nakamura Y, and Ikegawa S.:
"An aspartic acid repeat polymorphism in asporin negatively affects chondrogenesis and increases susceptibility to osteoarthritis."
Nat Genet 37(2), 138-44 (2005) - 9.*Okawa A, Nakamura I, Goto S, Moriya H, Nakamura Y, and Ikegawa S.:
"Mutation in Npps in a mouse model of ossification of the posterior longitudinal ligament of the spine."
Nat Genet 19(3), 271-31 (1998)
Recent Research Results
Jul. 7, 2021
A nuclear ‘gatekeeper’ that regulates bone formationAug. 26, 2016
Sending bone growth down the spineJul. 24, 2015
The genetic roots of adolescent scoliosisFeb. 6, 2015
Finding the roots of a spinal conditionJun. 28, 2013
Getting ahead of the curve
Related Links
Lab Members
Principal investigator
- Shiro Ikegawa
- Team Leader
Core members
- Ikuyo Inaba
- Senior Research Scientist
- Masahiro Nakajima
- Research Scientist
- Zheng Wang
- Research Scientist
- Long Guo
- Research Scientist
- Nao Otomo
- Junior Research Associate
- Hiroyuki Suetsugu
- Junior Research Associate
- Mao Lin
- International Program Associate
- Yoshie Takahashi
- Technical Staff II
- Tomoko Otsuki
- Technical Staff II
- Tomomi Oguma
- Technical Staff II
Contact Information
4-6-1 Shirokanedai,
Minato-ku, Tokyo
108-8639 JAPAN
Laboratory for Bone and Joint Diseases, SRC RIKEN.
Email: sikegawa [at] ims.u-tokyo.ac.jp