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Shared genetic aetiology of puberty timing between sexes and with health-related outcomes

Author

Listed:
  • Felix R. Day

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus)

  • Brendan Bulik-Sullivan

    (Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard
    Analytic and Translational Genetics Unit, Massachusetts General Hospital
    Medical and Population Genetics, Broad Institute)

  • David A. Hinds

    (23andMe Inc.)

  • Hilary K. Finucane

    (Harvard School of Public Health
    Massachusetts Institute of Technology)

  • Joanne M. Murabito

    (NHLBI’s and Boston University’s Framingham Heart Study
    Boston University School of Medicine, Section of General Internal Medicine)

  • Joyce Y. Tung

    (23andMe Inc.)

  • Ken K. Ong

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus
    University of Cambridge)

  • John R.B. Perry

    (MRC Epidemiology Unit, University of Cambridge School of Clinical Medicine, Box 285 Institute of Metabolic Science, Cambridge Biomedical Campus)

Abstract

Understanding of the genetic regulation of puberty timing has come largely from studies of rare disorders and population-based studies in women. Here, we report the largest genomic analysis for puberty timing in 55,871 men, based on recalled age at voice breaking. Analysis across all genomic variants reveals strong genetic correlation (0.74, P=2.7 × 10−70) between male and female puberty timing. However, some loci show sex-divergent effects, including directionally opposite effects between sexes at the SIM1/MCHR2 locus (Pheterogeneity=1.6 × 10−12). We find five novel loci for puberty timing (P

Suggested Citation

  • Felix R. Day & Brendan Bulik-Sullivan & David A. Hinds & Hilary K. Finucane & Joanne M. Murabito & Joyce Y. Tung & Ken K. Ong & John R.B. Perry, 2015. "Shared genetic aetiology of puberty timing between sexes and with health-related outcomes," Nature Communications, Nature, vol. 6(1), pages 1-6, December.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms9842
    DOI: 10.1038/ncomms9842
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    Cited by:

    1. Justyna A. Resztak & Jane Choe & Shreya Nirmalan & Julong Wei & Julian Bruinsma & Russell Houpt & Adnan Alazizi & Henriette E. Mair-Meijers & Xiaoquan Wen & Richard B. Slatcher & Samuele Zilioli & Rog, 2023. "Analysis of transcriptional changes in the immune system associated with pubertal development in a longitudinal cohort of children with asthma," Nature Communications, Nature, vol. 14(1), pages 1-14, December.
    2. Zhaozhong Zhu & Verneri Anttila & Jordan W Smoller & Phil H Lee, 2018. "Statistical power and utility of meta-analysis methods for cross-phenotype genome-wide association studies," PLOS ONE, Public Library of Science, vol. 13(3), pages 1-16, March.
    3. Hakhamanesh Mostafavi & Tomaz Berisa & Felix R Day & John R B Perry & Molly Przeworski & Joseph K Pickrell, 2017. "Identifying genetic variants that affect viability in large cohorts," PLOS Biology, Public Library of Science, vol. 15(9), pages 1-29, September.
    4. Lindsay Fernández-Rhodes & Jennifer R Malinowski & Yujie Wang & Ran Tao & Nathan Pankratz & Janina M Jeff & Sachiko Yoneyama & Cara L Carty & V Wendy Setiawan & Loic Le Marchand & Christopher Haiman &, 2018. "The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic ," PLOS ONE, Public Library of Science, vol. 13(7), pages 1-21, July.

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