Development of statistical analysis method for genetic epidemiology of complex clinical phenotypes

• Project/Area Number: 23590379
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Human genetics
• Research Institution: Kyoto University
• Principal Investigator: YAMADA Ryo 京都大学, 医学(系)研究科(研究院), 教授 (50301106)
• Project Period (FY): 2011 – 2013
• Project Status: Completed (Fiscal Year 2013)
• Budget Amount: ¥2,730,000 (Direct Cost: ¥2,100,000、Indirect Cost: ¥630,000); Fiscal Year 2013: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000); Fiscal Year 2012: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000); Fiscal Year 2011: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
• Keywords: 遺伝的多様性 / 統計解析

Research Abstract

It is one of urgent issues to realize personalized medicine based on the utilization of genetic heterogeneity. The definitions of clinical entities are complex in many cases and statistical evaluation of association and causation between combination of genetic variants and the clinical complex entities have to be developed. The experimental technology for detection of genetic variants has been in rapid progress, therefore statistical methods for genetic and phenotypic association also have to catch up the change. This research project mainly focused on the clinical phenotypes defined with so-called "diagnosis criteria" and on the emergence of rare variants information and developed statistical methods and also defined the fundamental problems to be solved before developing such methods.

Research Products

• [Journal Article] Airflow limitation in smokers is associated with arterial stiffness (2014)
  • Author(s): Tabara Y., Muro S., Yamada R., et al
  • Journal Title: The nagahama study Atherosclerosis Volume: 232 Pages: 59-64
• [Journal Article] Airflow limitation in smokers is associated with arterial stiffness: The nagahama study (2014)
  • Author(s): Tabara, Y., Muro, S., Takahashi, Y., Setoh, K., Kawaguchi, T., Terao, C., Yamada, R.,. . . Nagahama Study Group
  • Journal Title: Atherosclerosis Volume: 232 Issue: 1 Pages: 59-64
  • DOI: 10.1016/j.atherosclerosis.2013.10.020
  • Peer Reviewed
• [Journal Article] Common and Distinct Clinical Features in Adult Patients with Anti-Aminoacyl-tRNA Synthetase Antibodies : Heterogeneity within the Syndrome (2013)
  • Author(s): Hamaguchi Y., Fujimoto M., Yamada R., et al
  • Journal Title: PLoS One Volume: 8
• [Journal Article] Three Groups in the 28 joints for Rheumatoid Arthritis Synovitis–Analysis Using More than 17,000 Assessments in the KURAMA Database (2013)
  • Author(s): Terao C., Hashimoto M., Yamada R, et al
  • Journal Title: PLoS One Volume: 8
• [Journal Article] PLD4 as a noverl susceptibility gene for systemic sclerosis in a Japanese population (2013)
  • Author(s): Terao C., Ohmura K., Yamada R., et al
  • Journal Title: Arthritis & Rheum Volume: 65 Pages: 472-480
• [Journal Article] Vascular endothelial growth factor gene and the response to anti-vascular endothelial growth factor treatment for choroidal neovascularization in high myopia (2013)
  • Author(s): Miyake M., Yamashiro K., Yamada R., et al
  • Journal Title: Ophthalmology Volume: 121 Pages: 225-233
• [Journal Article] Common and Distinct Clinical Features in Adult Patients with Anti-Aminoacyl-tRNA Synthetase Antibodies: Heterogeneity within the Syndrome. (2013)
  • Author(s): Hamaguchi Y, Fujimoto M, Matsushita T, Kaji K, Komura K, Hasegawa M, Kodera M, Muroi E, Fujikawa K, Seishima M, Yamada H, Yamada R, Sato S, Takehara K, Kuwana M.
  • Journal Title: PLoS One Volume: 8(4) Issue: 4 Pages: e60442-e60442
  • DOI: 10.1371/journal.pone.0060442
  • Peer Reviewed
• [Journal Article] Vascular endothelial growth factor gene and the response to anti-vascular endothelial growth factor treatment for choroidal neovascularization in high myopia (2013)
  • Author(s): Miyake, M., Yamashiro, K., Akagi-Kurashige, Y., Kumagai, K., Nakata, I., Nakanishi, H., Yamada, R.,. . . Yoshimura, N.
  • Journal Title: Ophthalmology Volume: 121 Issue: 1 Pages: 225-223
  • DOI: 10.1016/j.ophtha.2013.06.043
  • Peer Reviewed
• [Journal Article] Three groups in the 28 joints for rheumatoid arthritis synovitis--analysis using more than 17,000 assessments in the KURAMA database (2013)
  • Author(s): Terao C, Hashimoto M, Yamamoto K, Murakami K, Ohmura K, Nakashima R, Yamakawa N, Yoshifuji H, Yukawa N, Kawabata D, Usui T, Yoshitomi H, Furu M, Yamada R, Matsuda F, Ito H, Fujii T, Mimori T
  • Journal Title: PLoS One Volume: 8(3) Issue: 3 Pages: e59341-e59341
  • DOI: 10.1371/journal.pone.0059341
  • NAID: 120005244457
  • Peer Reviewed
• [Journal Article] PLD4 as a novel susceptibility gene for systemic sclerosis in a Japanese population (2013)
  • Author(s): Terao C, Ohmura K, Kawaguchi Y, Nishimoto T, Kawasaki A, Takehara K, Furukawa H, Kochi Y, Ota Y, Ikari K, Sato S, Tohma S, Yamada R, Yamamoto K, Kubo M, Yamanaka H, Kuwana M, Tsuchiya N, Matsuda F, Mimori T
  • Journal Title: Arthritis Rheum Volume: 65 Issue: 2 Pages: 472-480
  • DOI: 10.1002/art.37777
  • Peer Reviewed
• [Journal Article] Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese (2012)
  • Author(s): Kawaguchi T., Sumida Y., Yamada R., et al
  • Journal Title: PLoS One Volume: 7
• [Journal Article] Genetic polymorphisms of the human PNPLA3 gene are strongly associated with severity of non-alcoholic fatty liver disease in Japanese. (2012)
  • Author(s): Kawaguchi T
  • Journal Title: PLoS One Volume: 7 Issue: 6 Pages: e38322-e38322
  • DOI: 10.1371/journal.pone.0038322
  • Peer Reviewed
• [Journal Article] A genome-wide association study identified AFF1 as a susceptibility locus for systemic lupus eyrthematosus in Japanese (2012)
  • Author(s): 岡田随象
  • Journal Title: PLoS Genetics Volume: (掲載確定) Issue: 1 Pages: 1002455-1002455
  • DOI: 10.1371/journal.pgen.1002455
  • NAID: 120005906866
  • Peer Reviewed
• [Journal Article] A Genome-Wide Association Study Identified AFF1 as a Susceptibility Locus for Systemic Lupus Eyrthematosus in Japanese (2011)
  • Author(s): Okada Y., Shimane K, Yamada R, et al
  • Journal Title: PLoS Genet Volume: 8
• [Journal Article] The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population (2011)
  • Author(s): Matsuse M, Takahashi M, Yamada R, et al
  • Journal Title: J Med Genet Volume: 48 Pages: 645-648
• [Journal Article] Association between the SERPING1 Gene and Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in Japanese (2011)
  • Author(s): Nakata I. Yamashiro K, Yamada R, et al
  • Journal Title: PLoS One Volume: 6
• [Journal Article] The FOXE1 and NKX2-1 loci are associated with susceptibility to papillary thyroid carcinoma in the Japanese population (2011)
  • Author(s): Matsuse M, Takahashi M, Mitsutake N, Saenko V, Bychkov A, Suzuki K, Matsuo K, Yamashita S, et al
  • Journal Title: J Med Genet Volume: 48(9) Issue: 9 Pages: 645-648
  • DOI: 10.1136/jmedgenet-2011-100063
  • NAID: 120006985044
  • Peer Reviewed
• [Journal Article] Association between the SERPING1 gene and age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese (2011)
  • Author(s): Nakata I, Yamashiro K, Yamada R, Gotoh N, Nakanishi H, Hayashi H, Tsujikawa A, Otani A, Saito M, Iida T, Oishi A, Matsuo K, Tajima K, Matsuda F, Yoshimura N
  • Journal Title: PLoS One Volume: 6 Issue: 4 Pages: e19108-e19108
  • DOI: 10.1371/journal.pone.0019108
  • Peer Reviewed
• [Presentation] Statistical Chaglleneges in the Analysis of Rare Genetic Variants in Association Studies (2012)
  • Author(s): Yamada. R
  • Organizer: Discussant comment XXVI-th International Biometric Conference
  • Place of Presentation: Kobe Japan
• [Presentation] An Orthogonal Matrix, Which is Useful to Interpre the Restriction of Marginal Counts of Multi-way Tables (2012)
  • Author(s): Kajimoto S., Yamada R.
  • Organizer: XXVI-th International Biometric Conference
  • Place of Presentation: Kobe Japan
• [Presentation] Statistical Challenges in the Analysis of Rare Genetic Variants in Association Studies, Discussing comment (2012)
  • Author(s): Yamada,R
  • Organizer: XXVIth International Biometric Conference
  • Place of Presentation: Kobe, Japan
• [Presentation] An Orthogonal Matrix, Which Is Useful to Interpret the Restriction of Marginal Counts of Multi-Way Tables. (2012)
  • Author(s): Kajimoto, S & Yamada, R
  • Organizer: XXVIth International Biometric Conference
  • Place of Presentation: Kobe, Japan
• [Presentation] Evaluation of power for linkage disequilibrium mapping (2011)
  • Author(s): Yamada R., Narahara M., Terao C, et al
  • Organizer: 20^<th> IGES Conference Heidelberg
  • Place of Presentation: Germany
• [Presentation] Evaluation of power for linkage disequilibri (2011)
  • Author(s): Yamada, R. Narahara, M, Terao, C.
  • Organizer: International genetic epidemiology meeting 2011
  • Place of Presentation: Heidelberg, Germany