Genome wide association analysis of age at menarche, menopause and menses cycle

• Project/Area Number: 23710316
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Gender
• Research Institution: The University of Tokyo
• Principal Investigator: TANIKAWA Chizu 東京大学, 医科学研究所, 助教 (30422421)
• Co-Investigator(Renkei-kenkyūsha): MATSUDA Koichi 東京大学, 医科学研究所, 准教授 (90401257)
• Project Period (FY): 2011 – 2012
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000); Fiscal Year 2012: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000); Fiscal Year 2011: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
• Keywords: 科学技術 / 医療 / 生命 / ゲノムワイド関連解析

Research Abstract

Age at menarche (AAM) is a complex trait involving both genetic and environmental factors. To identify the genetic factors associated with AAM, we conducted a large scale meta-analysis of genome-wide association studies using more than15,000 Japanese female samples. Here we identified an association between SNP (single nucleotide polymorphism) rs364663 at the LIN28B locus and AAM, with a P-value of 5.49 x10-7 and an effect size of 0.089 (year). We also evaluated 33 SNPs that were previouslyreported to be associated with AAM in women of European ancestry. Among them, two SNPs rs4452860 and rs7028916 in TMEM38B indicated significant association with AAM in the same directions as reported in previous studies (P = 0.0013 with an effect size of0.051) even after Bonferroni correction for the 33 SNPs. Our findings elucidated the impact of genetic variations on AAM in the Japanese population.

Research Products

• [Journal Article] Identification of a functional variant in the MICA promoter whichregulates MICA expression and increases HCV-related hepatocellular carcinoma risk (2013)
  • Author(s): P.H. Yi Lo, Y. Urabe, V. Kumar, C. Tanikawa, K. Koike, N. Kato, D. Miki, K. Chayama, M. Kubo, Y. Nakamura, K. Matsuda
  • Journal Title: PloS one Volume: 8
• [Journal Article] Impact of four loci on serum tamsulosin hydrochloride concentration (2013)
  • Author(s): R. Takata, K. Matsuda, J. Sugimura, W. Obara, T. Fujioka, K. Okihara, N. Takaha, T. Miki, S. Ashida, K. Inoue, C. Tanikawa, T. Shuin, S. Sasaki, Y. Kojima, K. Kohri, M. Kubo, M. Yamaguchi, Y. Ohnishi, Y. Nakamura
  • Journal Title: J Hum Genet Volume: 58 Pages: 21-26
  • NAID: 10031145896
• [Journal Article] A genome-wide association study of HCV-induced liver cirrhosis in the Japanese population identifies novel susceptibility loci at the MHC region (2013)
  • Author(s): Y. Urabe, H. Ochi, N. Kato, V. Kumar, A. Takahashi, R. Muroyama, N. Hosono, M. Otsuka, R. Tateishi, P.H. Lo, C. Tanikawa, M. Omata, K. Koike, D. Miki, H. Abe, N.Kamatani, J. Toyota, H. Kumada, M. Kubo, K. Chayama, Y. Nakamura, K. Matsuda
  • Journal Title: Journal of hepatology Volume: 58 Pages: 875-82
• [Journal Article] Impact of four loci on serum tamsulosin hydrochloride concentration (2013)
  • Author(s): Takata Ryo, Matsuda Koichi, Sugimura Jun, Obara Wataru, Fujioka Tomoaki, Okihara Koji, Takaha Natsuki, Miki Tsuneharu, Ashida Shingo, Inoue Keiji, Tanikawa Chizu, Shuin Taro, Sasaki Shoichi, Kojima Yoshiyuki, Kohri Kenjiro, Kubo Michiaki, Yamaguchi Masao, Ohnishi Yozo, Nakamura Yusuke
  • Journal Title: Journal of Human Genetics Volume: 58 Issue: 1 Pages: 21-26
  • DOI: 10.1038/jhg.2012.126
  • NAID: 10031145896
  • Peer Reviewed
• [Journal Article] Identification of a Functional Variant in the MICA Promoter Which Regulates MICA Expression and Increases HCV-Related Hepatocellular Carcinoma Risk. (2013)
  • Author(s): Lo PH, Urabe Y, Kumar V, Tanikawa C, Koike K, Kato N, Miki D, Chayama K, Kubo M, Nakamura Y, Matsuda K.
  • Journal Title: PLoS One. Volume: 8 Issue: 4 Pages: e61279-e61279
  • DOI: 10.1371/journal.pone.0061279
  • Peer Reviewed
• [Journal Article] A genome-wide association study of HCV-induced liver cirrhosis in the Japanese populationidentifies novel susceptibility loci at the MHC region (2013)
  • Author(s): Otsuka M
  • Journal Title: J Hepatol Volume: I(n press) Issue: 5 Pages: 875-882
  • DOI: 10.1016/j.jhep.2012.12.024
  • Peer Reviewed
• [Journal Article] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population (2012)
  • Author(s): C. Tanikawa, Y. Urabe, K. Matsuo, M. Kubo, A. Takahashi, H. Ito, K. Tajima, N. Kamatani, Y. Nakamura, K. Matsuda
  • Journal Title: Nat Genet Volume: 44
• [Journal Article] Soluble MICA and a MICA variation as possible prognostic biomarkers for HBV-induced hepatocellular carcinoma. (2012)
  • Author(s): Kumar V, et. al.
  • Journal Title: PLoS One. Volume: 7 Issue: 9 Pages: e44743-e44743
  • DOI: 10.1371/journal.pone.0044743
  • Peer Reviewed
• [Journal Article] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population. (2012)
  • Author(s): Tanikawa C, Urabe Y, Matsuo K, Kubo M, Takahashi A, Ito H, Tajima K, Kamatani N, Nakamura Y, Matsuda K.
  • Journal Title: Nat Genet. Volume: 44 Issue: 4 Pages: 430-434
  • DOI: 10.1038/ng.1109
  • Peer Reviewed
• [Journal Article] Regulation of histone modification and chromatin structure by the p53-PADI4 pathway (2012)
  • Author(s): Tanikawa C, Espinosa M, Suzuki A, Masuda K, Yamamoto K, Tsuchiya E, Ueda K, Daigo Y, Nakamura Y, Matsuda K.
  • Journal Title: Nat Commun. Volume: 3 Issue: 1 Pages: 676-676
  • DOI: 10.1038/ncomms1676
  • Peer Reviewed
• [Journal Article] CLCA2 as a p53-inducible senescence mediator (2012)
  • Author(s): C.Tanikawa, H.Nakagawa, Y.Furukawa, Y.Nakamura, K.Matsuda
  • Journal Title: Neoplasia Volume: 14 Issue: 2 Pages: 141-149
  • DOI: 10.1593/neo.111700
  • Peer Reviewed
• [Journal Article] A genome-wide association study of nephrolithiasis in the Japanese population identifies novel susceptible Loci at 5q35.3, 7p14.3, and 13q14.1. (2012)
  • Author(s): Urabe Y, Tanikawa C, Takahashi A, Okada Y, Morizono T, Tsunoda T, Kamatani N, Kohri K, Chayama K, Kubo M, Nakamura Y, Matsuda K.
  • Journal Title: PLoS Genet. Volume: 8 Issue: 3 Pages: 134-42
  • DOI: 10.1371/journal.pgen.1002541
  • Peer Reviewed
• [Journal Article] Common variants on 14q32 and 13q12 are associated with DLBCL susceptibility (2011)
  • Author(s): V.Kumar, K.Matsuo, A.Takahashi, N.Hosono, T.Tsunoda, N.Kamatani, S.Y.Kong, H.Nakagawa, R.Cui, C.Tanikawa, M.Seto, Y.Morishima, M.Kubo, Y.Nakamura, K.Matsuda
  • Journal Title: Journal of Human Genetics Volume: 56 Issue: 6 Pages: 436-439
  • DOI: 10.1038/jhg.2011.35
  • NAID: 10030659704
  • Peer Reviewed
• [Journal Article] Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population (2011)
  • Author(s): R.Cui, Y.Okada, S.G.Jang, J.L.Ku, J.G.Park, Y.Kamatani, N.Hosono, T.Tsunoda, V.Kumar, C.Tanikawa, N.Kamatani, R.Yamada, M.Kubo, Y.Nakamura, K.Matsuda
  • Journal Title: Gut Volume: 60 Issue: 6 Pages: 799-805
  • DOI: 10.1136/gut.2010.215947
  • Peer Reviewed
• [Journal Article] Genome wide association study of age at menarche in the Japanese population
  • Author(s): C. Tanikawa, Y. Okada, A. Takahashi, K. Oda, N. Kamatani, M. Kubo, Y. Nakamura, K. Matsuda
  • Journal Title: PloS one Volume: (in press)
• [Journal Article] Impact of PSCA variation on gastric ulcer susceptibility
  • Author(s): C. Tanikawa, K. Matsuo, M. Kubo, A. Takahashi, H. Ito, H. Tanaka, Y. Yatabe, K. Yamao, N. Kamatani, K. Tajima, Y. Nakamura, K. Matsuda
  • Journal Title: PloS one Volume: (in press)
• [Presentation] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population (2012)
  • Author(s): Chizu Tanikawa, Yuji Urabe, Keitaro Matsuo, Hidemi Ito, Kazuo Tajima,Yusuke Nakamura,Koichi Matsuda
  • Organizer: 第71回日本癌学会学術総会
  • Place of Presentation: 札幌
  • Year and Date: 2012-09-19
• [Presentation] p53-PADI4経路によるヒストン修飾およびクロマチン構造の制御 (2011)
  • Author(s): Chizu Tanikawa, Yataro Daigo, Yusuke Nakamura, Koichi Matsuda
  • Organizer: 日本癌学会
  • Place of Presentation: 名古屋国際会議場
• [Presentation] Regulation of histone modification and chromatin structure by p53-PADI4 pathway
  • Author(s): Chizu Tanikawa, Koichi Matsuda, Yusuke Nakamura
  • Organizer: 103th AACR Annual Meeting
  • Place of Presentation: McCormick Place, Chicago, USA
• [Presentation] A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population
  • Author(s): Chizu Tanikawa, Yuji Urabe, Keitaro Matsuo, Hidemi Ito, Kazuo Tajima,Yusuke Nakamura, Koichi Matsuda
  • Organizer: 第71回日本癌学会学術総会
  • Place of Presentation: ホテルロイトン札幌
• [Presentation] The role of histone citrullination through p53/PADI4 network in carcinogenesis.
  • Author(s): Chizu Tanikawa, Koichi Matsuda, Yusuke Nakamura
  • Organizer: 第71回日本癌学会学術総会
  • Place of Presentation: ホテルロイトン札幌
• [Presentation] The role of histone citrullination through p53/PADI4 network in carcinogenesis.
  • Author(s): Chizu Tanikawa, Yusuke Nakamura, Koichi Matsuda
  • Organizer: 第9回 日米癌合同会議
  • Place of Presentation: ハイアットリージェンシー、マウイ 米国
• [Remarks]
  • URL: http://www.ims.u-tokyo.ac.jp/nakamura/matsuda/index.html
• [Remarks]
  • URL: http://www.ims.u-tokyo.ac.jp/nakamura/matsuda/R%20s.html