Rxivist logo

Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 70,704 bioRxiv papers from 308,613 authors.

Elucidating the genetic architecture of reproductive ageing in the Japanese population

By Momoko Horikoshi, Felix R Day, Yoichiro Kamatani, Makoto Hirata, Masato Akiyama, Koichi Matsuda, Hollis Wright, Carlos A. Toro, Sergio R. Ojeda, Alejandro Lomniczi, Michiaki Kubo, Ken K. Ong, John R B Perry

Posted 30 Aug 2017
bioRxiv DOI: 10.1101/182717 (published DOI: 10.1038/s41467-018-04398-z)

Population studies over the past decade have successfully elucidated the genetic architecture of reproductive ageing. However, those studies were largely limited to European ancestries, restricting the generalizability of the findings and overlooking possible key genes poorly captured by common European genetic variation. Here, in up to 67,029 women of Japanese ancestry, we report 26 loci (all P<5x10-8) for puberty timing or age at menopause, representing the first loci for reproductive ageing in any non-European population. Highlighted genes for menopause include GNRH1, which supports a primary, rather than passive, role for hypothalamic-pituitary GnRH signalling in the timing of menopause. For puberty timing, we demonstrate an aetiological role for receptor-like protein tyrosine phosphatases by combining evidence across population genetics and pre- and peri-pubertal changes in hypothalamic gene expression in rodent and primate models. Furthermore, our findings demonstrate widespread differences in allele frequencies and effect estimates between Japanese and European populations, highlighting the benefits and challenges of large-scale trans-ethnic approaches.

Download data

  • Downloaded 371 times
  • Download rankings, all-time:
    • Site-wide: 31,945 out of 70,704
    • In genetics: 2,007 out of 3,916
  • Year to date:
    • Site-wide: 57,316 out of 70,704
  • Since beginning of last month:
    • Site-wide: 47,839 out of 70,704

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News