Genome-wide association analyses of 42 female reproductive disorders identify 195 associations between genetic variants and reproductive health traits, including previously unidentified risk factors for ovarian cysts and uterine fibroids. We characterize the genetic architecture of studied traits and highlight the potential of a polygenic risk score to enhance risk prediction for intrahepatic cholestasis of pregnancy.
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Fig. 1: Loci associated with studied female reproductive health traits.
References
McKinsey Health Institute. Women’s Health available at: https://www.mckinsey.com/mhi/focus-areas/equity-and-health/womens-health (accessed 9 March 2025). This report highlights how closing the women’s health gap improves women’s quality of life and drives positive effects throughout society.
Uffelmann, E. et al. Genome-wide association studies. Nat. Rev. Methods Primers 1, 59 (2021). This review presents an introduction to GWAS.
CASGoogle Scholar
Ruth, K. S. et al. Genetic insights into biological mechanisms governing human ovarian ageing. Nature 596, 393–397 (2021). This paper identifies 290 genetic determinants that influence human ovarian aging.
CASPubMedPubMed CentralGoogle Scholar
Kentistou, K. A. et al. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nat. Genet. 56, 1397–1411 (2024). This paper identifies 1,080 genetic signals that influence pubertal timing across ancestries.
CASPubMedPubMed CentralGoogle Scholar
A life-course approach to women’s health. Nat. Med. 30, 1 (2024). This editorial introduces a discussion on how to improve the health of women and girls as part of a route to achieving global health equity.
Google Scholar
Wickham, H*. ggplot2: Elegant Graphics for Data Analysis* (Springer-Verlag, 2016).
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This is a summary of: Pujol Gualdo, N. et al. Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses. Nat. Med. https://doi.org/10.1038/s41591-025-03543-8 (2025).
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Using genetics as a tool to understand female reproductive health better. Nat Med (2025). https://doi.org/10.1038/s41591-025-03663-1
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Published:02 April 2025
DOI:https://doi.org/10.1038/s41591-025-03663-1
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