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

2012 Fiscal Year Final Research Report

• 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
• Keywords: 科学技術 / 医療 / 生命

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 Pages: e61279
• [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
• [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] 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 Pages: 430-434,S431-432
• [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
• [Remarks]
  • URL: http://www.ims.u-tokyo.ac.jp/nakamura/matsuda/index.html