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Laboratory for Genotyping Development
Michiaki KUBO
Laboratory Head
Michiaki KUBO
(M.D., Ph.D.)
mail

Research Areas

Our team has established a high-throughput SNP genotyping system using a combined method of multiplex-PCR and the Invader assay. Using this system, our team has contributed to the establishment of JSNP databaseand the success of the phase 1 of the International HapMap Project (largest contribution among the international participating laboratories in the world).

Based on these achievements, we are now generating a large amount of SNP genotyping data for the association studies of common diseases using samples collected in the BioBank Japan Project and other collaboration projects. In addition, we are performing genotyping of samples for pharmacogenetic study which are collected by Global Alliance of Pharmacogenetics (GAP-J) project since 2008. Moreover, we developed the new genotyping method to detect copy number variation (RETINA). We also trying to develop SNP genotyping system for clinical use.

Research Subject

  1. Genome-wide SNP genotyping for association studies of common disease
  2. Technological innovation of genetic variations including copy number variation
  3. Clinical application of SNP genotyping method
  4. Collaborative reseach for susceptibility genes of various diseases

Related links

  1. RIKEN Center for Genomic Medicine Website_Laboratories PageNew Window

Press release

November 19, 2009
Identification of three genes involved in the onset of the incurable ulcerative colitis disease

List of Selected Publications

  1. Ingle JN, Schaid DJ, Goss PE, Liu M, Mushiroda T, Chapman JA, Kubo M, Jenkins GD, Batzler A, Shepherd L, Pater J, Wang L, Ellis MJ, Stearns V, Rohrer DC, Goetz MP, Pritchard KI, Flockhart DA, Nakamura Y, Weinshilboum RM.:
    "Genome-wide associations and functional genomic studies of musculoskeletal adverse events in women receiving aromatase inhibitors."
    J Clin Oncol. 28: 4674-82 (2010)
  2. 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."
    Nat Genet. 42: 893-6 (2010)
  3. Hosono N, Chantarangsu S, Kiyotani K, Takata S, Tsuchiya Y, Mahasirimongkol S, Chantratita W, Mushiroda T, Nakamura Y, Kubo M.:
    "Development of new HLA-B*3505 genotyping method using Invader assay."
    Pharmacogenet Genomics. 20: 630-3 (2010)
  4. Takata R, Akamatsu S, Kubo M, Takahashi A, Hosono N, Kawaguchi T, Tsunoda T, Inazawa J, Kamatani N, Ogawa O, Fujioka T, Nakamura Y, Nakagawa H.:
    "Genome-wide association study identifies five new susceptibility loci for prostate cancer in the Japanese population."
    Nat Genet. 42: 751-4 (2010)
  5. Matsushita T, Ashikawa K, Yonemoto K, Hirakawa Y, Hata J, Amitani H, Doi Y, Ninomiya T, Kitazono T, Ibayashi S, Iida M, Nakamura Y, Kiyohara Y, Kubo M.:
    "Functional SNP of ARHGEF10 confers risk of atherothrombotic stroke."
    Hum Mol Genet. 19: 1137-1146 (2010)
  6. 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."
    Nat Genet. 41: 1325-1329 (2009)
  7. Hosono N, Kato M, Kiyotani K, Mushiroda T, Takata S, Sato H, Amitani H, Tsuchiya Y, Yamazaki K, Tsunoda T, Zembutsu H, Nakamura Y, Kubo M.:
    "CYP2D6 genotyping for functional-gene dosage analysis by allele copy number detection."
    Clin Chem. 55: 1546-54 (2009)
  8. Hosono N, Kubo M, Tsuchiya Y, Sato H, Kitamoto T, Saito S, Ohnishi Y, Nakamura Y.:
    "Multiplex PCR-based real-time Invader assay (mPCR-RETINA): a novel SNP-based method for detecting allelic asymmetries within copy number variation regions."
    Hum Mutat. 29, 182-189 (2008).
  9. Kubo M, Hata J, Ninomiya T, Matsuda K, Yonemoto K, Nakano T, Matsushita T, Yamazaki K, Ohnishi Y, Saito S, Kitazono T, Ibayashi S, Sueishi K, Iida M, Nakamura Y, and Kiyohara Y.:
    "Nonsynonymous SNP in PRKCH encoding protein kinase c-η increases the risk of cerebral infarction"
    Nat. Genet. 39, 212-217 (2007).
  10. The International HapMap Consortium:
    "A haplotype map of the human genome"
    Nature, 437, 1299-1320 (2005).

Members

Michiaki KUBO
Laboratory Head
Keiko YAMAZAKI
 
Masayuki AOKI
 
Yukihide MOMOZAWA
 
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