Pulse Brain · Growing Health Evidence Index
Tier 1 — Meta-analysis / systematic reviewPeer-reviewed

Genetic insights into biological mechanisms governing human ovarian ageing

Katherine S. Ruth, Felix R. Day, Jazib Hussain, Ana Martínez-Marchal, Catherine Aiken, Ajuna Azad, Deborah J. Thompson, Lucie Knoblochová, Hironori Abe, Jane L. Tarry‐Adkins, Javier Martín‐González, Pierre Fontanillas, Annique Claringbould, Olivier B. Bakker, Patrick Sulem, Robin Walters, Chikashi Terao, Sandra Turon, Momoko Horikoshi, Kuang Lin, N. Charlotte Onland‐Moret, Aditya Sankar, Emil Peter Thrane Hertz, Pascal Timshel, Vallari Shukla, Rehannah Borup, Kristina Wendelboe Olsen, Paula Aguilera, Mònica Ferrer‐Roda, Yan Huang, Stasa Stankovic, Paul R. H. J. Timmers, Thomas U. Ahearn, Behrooz Z. Alizadeh, Elnaz Naderi, Irene L. Andrulis, Alice M. Arnold, Kristan J. Aronson, Annelie Augustinsson, Stefania Bandinelli, Caterina Barbieri, Robin N. Beaumont, Heiko Becher, Matthias W. Beckmann, Stefania Benónísdóttir, Sven Bergmann, Murielle Bochud, Eric Boerwinkle, Stig E. Bojesen, Manjeet K. Bolla, Dorret I. Boomsma, Nicholas Bowker, Jennifer A. Brody, Linda Broer, Julie E. Buring, Archie Campbell, Harry Campbell, Jose E. Castelao, Eulalia Catamo, Stephen J. Chanock, Georgia Chenevix‐Trench, Marina Ciullo, Tanguy Corre, Fergus J. Couch, Angela Cox, Laura Crisponi, Simon S. Cross, Francesco Cucca, Kamila Czene, George Davey Smith, Eco J. C. de Geus, Renée de Mutsert, Immaculata De Vivo, Ellen W. Demerath, Joe Dennis, Alison M. Dunning, Miriam Dwek, Mikael Eriksson, Tõnu Esko, Peter A. Fasching, Jessica D. Faul, Luigi Ferrucci, Nora Franceschini, Timothy M. Frayling, Manuela Gago-Domínguez, Massimo Mezzavilla, Montserrat García‐Closas, Christian Gieger, Graham G. Giles, Harald Grallert, Daníel F. Guðbjartsson, Vilmundur Guðnason, Pascal Guénel, Christopher A. Haiman, Niclas Håkansson, Per Hall, Caroline Hayward, Chunyan He, Wei He, Gerardo Heiss

Nature · 2021

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Summary

This large international GWAS meta-analysis identified genetic loci and biological mechanisms governing human ovarian ageing and the timing of menopause. The study, as suggested by its scope and Nature publication, represents a substantial characterisation of the heritable basis of reproductive lifespan in women, potentially informing understanding of age-related fertility decline and menopausal transition. The findings may have implications for predicting individual variation in reproductive ageing, though clinical translation remains developmental.

Regional applicability

Findings are applicable to understanding reproductive health in UK women, as the study included European cohorts and presents population-level genetic insights relevant to British healthcare practice. However, the utility of genetic prediction for individual clinical management in UK reproductive medicine services requires further validation and integration with existing NHS guidance.

Key measures

Age at natural menopause, genetic variants (single nucleotide polymorphisms), heritability estimates, pathway analysis of biological mechanisms

Outcomes reported

The study identified genetic loci and biological pathways governing the timing of ovarian ageing and menopause through genome-wide association analysis. The research characterised genetic variants associated with age at natural menopause and their effects on reproductive health outcomes.

Theme
Nutrition & health
Subject
Maternal, infant & child nutrition
Study type
Research
Study design
Genome-wide association study (GWAS) and meta-analysis
Source type
Peer-reviewed study
Status
Published
Geography
International
System type
Human clinical
DOI
10.1038/s41586-021-03779-7
Catalogue ID
BFmoef2ocf-a7mu25

Topic tags

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