Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

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  • dc.contributor.author Hollis, Ben
  • dc.contributor.author Day, Felix R.
  • dc.contributor.author Busch, Alexander S.
  • dc.contributor.author Thompson, Deborah J.
  • dc.contributor.author Soares, Ana Luiza G.
  • dc.contributor.author Timmers, Paul R.H.J.
  • dc.contributor.author Kwong, Alex
  • dc.contributor.author Easton, Doug F.
  • dc.contributor.author Joshi, Peter K.
  • dc.contributor.author Timpson, Nicholas J.
  • dc.contributor.author PRACTICAL Consortium
  • dc.contributor.author 23andMe Research Team
  • dc.contributor.author Ong, Ken K.
  • dc.contributor.author Perry, John R. B.
  • dc.date.accessioned 2022-05-30T06:34:00Z
  • dc.date.available 2022-05-30T06:34:00Z
  • dc.date.issued 2020
  • dc.description.abstract The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report a multi-trait genome-wide association study for male puberty timing with an effective sample size of 205,354 men. We find moderately strong genomic correlation in puberty timing between sexes (rg = 0.68) and identify 76 independent signals for male puberty timing. Implicated mechanisms include an unexpected link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and Mendelian randomization analyses show a genetic association between male puberty timing and shorter lifespan. These findings highlight the relationships between puberty timing and health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes.
  • dc.description.sponsorship This work was funded by the UK Medical Research Council (MRC; Unit programme MC_UU_12015/2) and used UK Biobank data under application 9905. The MRC, Wellcome Trust (Grant ref: 102215/2/13/2) and the University of Bristol provide core support for ALSPAC. This publication is the work of the authors and <John Perry and Ken Ong> will serve as guarantors for the contents of this paper. GWAS data for ALSPAC was generated by Sample Logistics and Genotyping Facilities at Wellcome Sanger Institute and LabCorp (Laboratory Corporation of America) using support from 23andMe. We are extremely grateful to all the families who took part in the ALSPAC study, the midwives for their help in recruiting them, and the whole ALSPAC team, which includes interviewers, computer and laboratory technicians, clerical workers, research assistants, volunteers, managers, receptionists and nurses. We thank the research participants and employees of 23andMe for making this work possible. Genotyping of the OncoArray was funded by the US National Institutes of Health (NIH) [U19 CA154 148537 for ELucidating Loci Involved in Prostate cancer SuscEptibility (ELLIPSE) project and X01HG007492 to the Center for Inherited Disease Research (CIDR) under contract number 156 HHSN268201200008I]. Additional analytic support was provided by NIH NCI U01 CA188392 157 (PI: Schumacher). The PRACTICAL consortium was supported by Cancer Research UK Grants C5047/A7357, C1287/A10118, C1287/A16563, C5047/A3354, C5047/A10692, C16913/A6135, European 160 Commission’s Seventh Framework Programme grant agreement no° 223175 (HEALTH-F2-2009-223175), and The National Institute of Health (NIH) Cancer Post-Cancer GWAS initiative grant: No. 1 U19 CA 148537-01 (the GAME-ON initiative). We would also like to thank the following for funding support: The Institute of Cancer Research and The Everyman Campaign, The Prostate Cancer Research Foundation, Prostate Research Campaign UK (now Prostate Action), The Orchid Cancer Appeal, The National Cancer Research Network UK, The National Cancer Research Institute (NCRI) UK. We are grateful for support of NIHR funding to the NIHR Biomedical Research Centre at The Institute of Cancer Research and The Royal Marsden NHS Foundation Trust. In memoriam: Brian E. Henderson.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Hollis B, Day FR, Busch AS, Thompson DJ, Soares ALG, Timmers PRHJ, Kwong A, Easton DF, Joshi PK, Timpson NJ; PRACTICAL Consortium; 23andMe Research Team, Ong KK, Perry JRB. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan. Nat Commun. 2020 Mar 24;11(1):1536. DOI: 10.1038/s41467-020-14451-5
  • dc.identifier.doi http://dx.doi.org/10.1038/s41467-020-14451-5
  • dc.identifier.issn 2041-1723
  • dc.identifier.uri http://hdl.handle.net/10230/53295
  • dc.language.iso eng
  • dc.publisher Nature Research
  • dc.relation.ispartof Nat Commun. 2020 Mar 24;11(1):1536
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/223175
  • dc.rights © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword Endocrinology
  • dc.subject.keyword Genetics research
  • dc.subject.keyword Genome-wide association studies
  • dc.subject.keyword Reproductive biology
  • dc.title Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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