Kyoto University School of Public Health

Genome Epidemiology

Fumihiko Matsuda, Ph.D.

Study of human diseases based on genetic information in the human genome is one of the most important subjects in the Post Genome Project. In particular, to overcome human multigenetic disorders, it is essential to perform trans-ethnic genetic analyses of human genome variations. In our laboratory, we perform SNP identification and genotyping of candidate genes of multigenetic diseases using DNA samples of patients and control subjects from different ethnic origins. We also work on the construction of a comprehensive SNP database of different multigenetic diseases which integrates genetic and clinical information using the latest bioinformatic and statistical genetic tools. We try to establish a new generation genome variation-based genomic strategy which will directly linked to clinical research and therapeutics.

Research and Education

We have established an extensive international collaboration for ‘Genomic Epidemiology of Human Multigenetic Disorders’ with Centre National de Genotypage (CNG) in France. We focus on diseases related to the immune system such as Rheumatoid Arthritis, Lupus, Hyperthyroidism and AIDS, and those in which DNA repair mechanism is involved such as cancer. We have started a systematic SNP identification using a standard panel of DNA samples from multiple ethnic groups (Caucasians, Japanese, Africans, Thai). Based on the SNP catalog obtained, we undertake a large-scale case/control study by genotyping SNPs on an epidemiological scale (sample scale of > 1,000 individuals). Results are deposited in a disease-based genetic database which contains information of genes and their genetic variations combined with patient’s clinical information. Extensive statistical analyses is performed using a variety of statistical programs developed from joint research with CNG and The Rockefeller University in U.S.A. Comparison of genotypes between patients and controls among different ethnicities leads to the identification of disease-specific and ethnicity-specific genome variations. Annotated data will be made available to the scientific community as basic genetic information of diseases for future development of diagnostics and individual-based therapy (tailor-made medicine).

Research Publication

  1. Nakanishi, H., Yamada, R., Gotoh, N., Hayashi, H., Yamashiro, K., Shimada, N., Ohno-Matsui, K., Mochizuki, M., Saito, M., Iida, T., Matsuo, K., Tajima, K., Yoshimura, N. and Matsuda, F. (2009) A Genome-Wide Association Analysis Identified a Novel Susceptible Locus for Pathological Myopia at 11q24.1. PLoS Genetics Epub 2009 Sep 25.
  2. McKay, J.D. et al. (2008) Lung cancer susceptibility locus at 5p15.33. Nat. Genet. 40, 1404-1406
  3. Link, E., Parish, S., Armitage, J., Bowman, L., Heath, S., Matsuda, F., Gut, I., Lathrop, M. and Collins, R. (2008) SLCO1B1 variants and statin-induced myopathy–a genomewide study. N. Engl. J. Med. 359, 789-799.
  4. Hung, R.J. et al. (2008) A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25. Nature. 452, 633-637.
  5. Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., Best, S., Spector, T. D., Farrall, M., Lathrop, M. and Thein, S. L. (2007) A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genet. 39, 1197-1199. Epub 2007 Sep 2.
  6. Vasilescu, A., Terashima, Y., Enomoto, M., Heath, S., Poonpiriya, V., Gatanaga, H., Do, H., Diop, G., Hirtzig, T., Auewarakul, P., Lauhakirti, D., Sura, T., Charneau, P., Marullo, S., Therwath, A., Oka, S., Kanegasaki, S., Lathrop, M., Matsushima, K., Zagury, J. -F. and Matsuda, F. (2007) A haplotype of the human CXCR1 gene protective against rapid disease progression in HIV-1+ patients. Proc. Natl. Acad. Sci. U. S. A. 104, 3354-3359.

Health Analysis Course Department of Genome Epidemiology

Professor:Fumihiko Matsuda