Research Group for Medical Informatics
Group Director
Tatsuhiko TSUNODA
(Ph.D.(Medicine) & Ph.D.(Eng.))
Our team aims at the development of statistical and informatics-based methods as well as the construction of the computer programs using them to achieve the goal of the development of personalized medicine. Using such programs, we analyze the real data in collaboration with other teams in Center for Genomic Medicine (CGM), RIKEN and University of Tokyo. The focus is on the analyses based on the method called GWAS (genome-wide association study) which was developed for the first time in the world in RIKEN in 2002 (Ozaki et al. 2002, Nat Genet). After 2007, however, many GWAS research results have published from other countries.
Initally some researchers did not accept the validity of such studies because they were embarrased by the medical and biolgoical researches principally based on mathematics and statistics rather than molecular biology on which they mainly focused. However, because of the accumulation of the results of many such studies, GWAS turned out to be a powerful and roboust tool to search for true genetic associations. Our team develops algorithms and software to analyze the GWAS data and help other teams from the mathematical field. In addition, we study the characteristics of this method and how to interpret the results obtained from it from the mathematical viewpoint. In the fiscal year of 2009, we extended GWAS to the field of clinical laboratory data from disease and drug-response areas using the Japan Biobank data in collaboration with University of Tokyo. These results expanded the area GWAS can handle very much. If the association between a genomic variation and phenotypes become evident, it cannot be applied to clinical practice immediately. We have to constuct a pathway from the basic results to clinical practice and overcome the obstacles one by one. To achieve the goal of personalized medicine, the evidence based on qualitative analysis is important in addition to the qualitative analysis. That is, we have to perform satistical and informatics-based analyses mathematically. Our team develop algorithms and computer programs useful for such purposes.
- Development of methods for GWAS (genome-wide association study)
- Application of methods for GWAS
- Studies on the methods for personalized medicine based on gentic polymorphisms
- Studies on the methods for genome analyses based on haplotypes
- September 26, 2008
- An attempt to understand the genomic structure of the Japanese people through an analysis of DNA base polymorphism of a hundred and forty thousand bases for each individual
- Okada Y, Takahashi A, Ohmiya H, Kumasaka N, Kamatani Y, Hosono N, Tsunoda T, Matsuda K, Tanaka T, Kubo M, Nakamura Y, Yamamoto K, Kamatani N.
"Genome-wide association study for C-reactive protein levels identified pleiotropic associations in the IL6 locus."
Human Molecular Genetics 15: 1224-32 (2011) - Miki D, Kubo M, Takahashi A, Yoon KA, Kim J, Lee GK, Zo JI, Lee JS, Hosono N, Morizono T, Tsunoda T, Kamatani N, Chayama K, Takahashi T, Inazawa J, Nakamura Y, Daigo Y.
"Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations."
Nature Genetics 42:893-6 (2010) - Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N.
"A genome-wide association study in 19,633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci."
Human Molecular Genetics 19:2303-12 (2010) - Nakashima M, Chung S, Takahashi A, Kamatani N, Kawaguchi T, Tsunoda T, Hosono N, Kubo M, Nakamura Y, Zembutsu H.
"A genome-wide association study identifies four susceptibility loci for keloid in the Japanese population."
Nature Genetics 42:768-71 (2010) - Kumasaka N, Yamaguchi-Kabata Y, Takahashi A, Kubo M, Nakamura Y, Kamatani N
"Establishment of a standardized system to perform population structure analyses with limited sample size or with different sets of SNP genotypes."
Journal of Human Genetics 55:425-433 (2010) - Okada Y, Kamatani Y, Takahashi A, Matsuda K, Hosono N, Ohmiya H, Daigo Y, Yamamoto K, Kubo M, Nakamura Y, Kamatani N.
"Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count."
Human Molecular Genetics 15:2079-85 (2010) - Asano.K,Matsushita.T,Umeno.J,Hosono.N,Takahashi.A,Kawaguchi.T,Matsumoto.T, Matsui.T, Kakuta.Y, Kinouchi.Y, Shimosegawa.T,Hosokawa.M,Arimura.Y,Shinomura.Y, Kiyohara.Y,Tsunoda.T,Kamatani.N,Iida.M,Nakamura.Y,Kubo.M.
"A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population."
Nature Genetics 4:1325-1331 (2009) - Yamaguchi-Kabata Y, Nakazono K, Takahashi A, Saito S, Hosono N, Kubo M, Nakamura Y, Kamatani N.
"Japanese population structure, based on SNP genotypes from 7003 individuals compared to other ethnic groups: effects on population-based association studies."
Amecican Journal of Human Genetics 83:445-56 (2008) - Unoki H, Takahashi A, Kawaguchi T, Hara K, Horikoshi M, Andersen G, Ng DP, Holmkvist J, Borch-Johnsen K, Jørgensen T, Sandbaek A, Lauritzen T, Hansen T, Nurbaya S, Tsunoda T, Kubo M, Babazono T, Hirose H, Hayashi M, Iwamoto Y, Kashiwagi A, Kaku K, Kawamori R, Tai ES, Pedersen O, Kamatani N, Kadowaki T, Kikkawa R, Nakamura Y, Maeda S.
"SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations."
Nature Genetics 40:1098-102 (2008) - Takitoh S, Fujii S, Mase Y, Takasaki J, Yamazaki T, Ohnishi Y, Yanagisawa M, Nakamura Y, Kamatani N.
"Accurate automated clustering of two-dimensional data for single-nucleotide polymorphism genotyping by a combination of clustering methods: evaluation by large-scale real data."
Bioinformatics 15:408-13 (2007)
- Tatsuhiko TSUNODA
- Group Director