Genome Wide Association Study of Age at Menarche in the Japanese Population

Chizu Tanikawa, Yukinori Okada, Atsushi Takahashi, Katsutoshi Oda, Naoyuki Kamatani, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)

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 than 15,000 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 5.49×10-7 and an effect size of 0.089 (year). We also evaluated 33 SNPs that were previously reported 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 of 0.051) even after Bonferroni correction for the 33 SNPs. In addition, six loci in or near CCDC85A, LOC100421670, CA10, ZNF483, ARNTL, and RXRG exhibited suggestive association with AAM (P<0.05). Our findings elucidated the impact of genetic variations on AAM in the Japanese population.

Original languageEnglish
Article numbere63821
JournalPloS one
Volume8
Issue number5
DOIs
Publication statusPublished - 07-05-2013
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General

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