A groundbreaking study has uncovered four genes that play crucial roles in determining the timing of menopause, providing valuable insights into the connection between menopause onset and cancer risk. Published in Nature and funded by the Medical Research Council (MRC) and Wellcome, the research reveals that women with certain genetic variants experience menopause between two and five years earlier than average.
The study analyzed genetic data from 106,973 post-menopausal women participating in the UK Biobank study. Researchers focused on rare genetic variations that affect protein loss and investigated their role in influencing menopause timing. One of the most striking findings was a variant in the ZNF518A gene, found in only 1 in 4,000 women, which showed the strongest effect on shortening reproductive lifespan. This impact is five times greater than any previously identified common genetic variant.
Additionally, the study revealed links between menopause timing genes and cancer risk. Genes influencing the age of menopause onset were also found to be associated with an increased risk of cancer, including well-known genes like BRCA1 and BRCA2. A fifth gene, SAMHD1, was discovered to delay menopause by over a year on average and is associated with cancer predisposition in both men and women.
Professor John Perry from the MRC Epidemiology Unit at the University of Cambridge, co-lead of the study, emphasized the broader implications of this research, particularly for infertility and reproductive disorders. He noted that “studying ovarian aging will not only lead to a better understanding of reproductive health but also enhance our knowledge of processes that regulate DNA damage and cancer risk.
Professor Anna Murray of the University of Exeter Medical School, also co-lead, highlighted the importance of understanding the timing of menopause in relation to women’s health and family planning. The research provides new avenues for future studies and therapeutic interventions aimed at prolonging reproductive life and reducing cancer risk.
This landmark study marks a significant step forward in understanding the genetic factors influencing menopause and its relationship to broader health risks, particularly cancer, opening new pathways for treatments that could improve reproductive health and prolong quality of life.
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