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Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

The LifeLines Cohort Study, Felix R. Day, kConFab/AOCS Investigators, Deborah J. Thompson, Hannes Helgason, Daniel I. Chasman, Hilary K. Finucane, Patrick Sulem, Katherine S. Ruth, Sean Whalen, Abhishek Sarkar, Eva Albrecht, Elisabeth Altmaier, Marzyeh Amini, Caterina Barbieri, Thibaud Boutin, Archie Campbell, Ellen W. Demerath, Ayush Giri, Chunyan He, Jouke‐Jan Hottenga, Robert Karlsson, Ivana Kolčić, Po‐Ru Loh, Kathryn L. Lunetta, Massimo Mangino, Marco Brumat, George McMahon, Sarah E. Medland, Ilja M. Nolte, Raymond Noordam, Teresa Nutile, Lavinia Paternoster, Natalia Perjakova, Eleonora Porcu, Lynda M. Rose, Katharina E. Schraut, Ayellet V. Segrè, Albert V. Smith, Lisette Stolk, Alexander Teumer, Irene L. Andrulis, Stefania Bandinelli, Matthias W. Beckmann, Javier Benı́tez, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E. Bojesen, Manjeet K. Bolla, Judith S. Brand, Hiltrud Brauch, Hermann Brenner, Linda Broer, Thomas Brüning, Julie E. Buring, Harry Campbell, Eulalia Catamo, Stephen J. Chanock, Georgia Chenevix‐Trench, Tanguy Corre, Fergus J. Couch, Diana L. Cousminer, Angela Cox, Laura Crisponi, Kamila Czene, George Davey Smith, Eco J. C. de Geus, Renée de Mutsert, Immaculata De Vivo, Joe Dennis, Peter Devilee, Isabel dos‐Santos‐Silva, Alison M. Dunning, Johan G. Eriksson, Peter A. Fasching, Lindsay Fernández‐Rhodes, Luigi Ferrucci, Dieter Flesch‐Janys, Lude Franke, Marike Gabrielson, Ilaria Gandin, Graham G. Giles, Harald Grallert, Daníel F. Guðbjartsson, Pascal Guénel, Per Hall, Emily Hallberg, Ute Hamann, Tamara B. Harris, Catharina A. Hartman, Gerardo Heiss, Maartje J. Hooning, John L. Hopper, Frank B. Hu, David J. Hunter, M. Arfan Ikram, Hae Kyung Im, Marjo‐Riitta Järvelin, Peter K. Joshi

Nature Genetics · 2017

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Summary

This large-scale genome-wide association meta-analysis identified hundreds of genetic variants associated with age at menarche across multiple population cohorts. The findings support a biological link between puberty timing and cancer risk, as suggested by the variant discovery and downstream phenotypic associations. The work contributes to understanding how developmental timing influences long-term disease susceptibility.

Regional applicability

As a genomic study with predominantly European-ancestry populations (inferred from cohort names including LifeLines, kConFab/AOCS, and UK Biobank-linked collaborations), the findings are broadly applicable to United Kingdom research and clinical genetics practice, though generalisability to non-European ancestry groups remains limited.

Key measures

Genome-wide association study (GWAS) variants; age at menarche; cancer risk associations

Outcomes reported

The study identified hundreds of genetic variants associated with age at menarche through genome-wide association analysis. The research explored potential links between puberty timing and cancer susceptibility.

Theme
Nutrition & health
Subject
Other / interdisciplinary
Study type
Meta-analysis
Study design
Meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/ng.3841
Catalogue ID
BFmowc2by2-30xvsy

Topic tags

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