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December 23, 2024 – Oxford, UK
Researchers from the University of Oxford’s Leverhulme Centre for Demographic Science and the University of Iceland have conducted the most comprehensive study to date on the genetics of reproductive health and longevity. Published in Nature Aging, the review identifies 37 key genes linked to reproductive traits such as the timing of menopause, age at first childbirth, and hormone regulation. These findings illuminate how genetic variations shape not only fertility but also broader health outcomes, including longevity and risks for certain diseases.
Genetic Blueprint for Reproductive Health
Drawing from 159 studies in the GWAS Catalog—an online repository of Genome-Wide Association Studies—the researchers highlighted how these 37 genes influence critical reproductive traits. Among the standout discoveries was the FSHB gene, which is tied to 11 different reproductive outcomes. This gene plays a pivotal role in regulating the onset of menstruation and menopause, underscoring its significance in reproductive health and aging.
Additionally, the study uncovered links between reproductive genes and rare genetic disorders, revealing the profound impact of DNA on fertility and overall health.
“As more people delay parenthood, it’s crucial to understand the genetic factors underpinning reproductive health,” explained Professor Melinda Mills, senior author and Director of the Leverhulme Centre. “Our findings connect genetics to health, BMI, hormone-sensitive cancers, and even psychiatric traits.”
Health Implications: Cancer, Obesity, and Longevity
The researchers also explored how reproductive genetics intersect with broader health risks and longevity. For instance, the ESR1 gene, which regulates estrogen, was linked to reproductive traits and hormone-sensitive cancers like breast cancer. Early puberty or late menopause, while linked to a longer lifespan, may increase cancer risks.
The FTO gene, known for its ties to BMI and obesity, was found to influence multiple reproductive traits. With more people postponing childbirth, understanding these connections has become increasingly important for advancing healthcare.
Spotlight on Male Fertility
Historically, reproductive genetics research has focused on women. However, this review provided valuable insights into male fertility, identifying genes like DNAH2, which influences testosterone levels and sperm function.
“Male reproductive health is often overlooked despite its importance,” said co-author Vincent Straub, a doctoral researcher. “By studying the genetics of male infertility, we hope to uncover new treatments for those facing reproductive challenges.”
Impacts on Future Generations
The study also delved into how aging parents pass genetic mutations—known as de novo mutations—to their offspring. These spontaneous genetic changes, previously explored by senior co-author Professor Augustine Kong, can significantly affect the health and development of future generations.
Paving the Way for Personalized Healthcare
First author Dr. Stefanía Benónísdóttir emphasized the study’s significance for healthcare advancements: “By consolidating research, we offer a clearer picture of how genetic factors shape reproductive health. This knowledge is vital for addressing infertility and reproductive aging challenges.”
This groundbreaking review lays the foundation for personalized healthcare approaches, helping individuals and families make informed decisions about fertility and health across generations.
Reference:
“Genetics of female and male reproductive traits and their relationship with health, longevity and consequences for offspring” by Stefania Benonisdottir, Vincent J. Straub, Augustine Kong, and Melinda C. Mills, 13 December 2024, Nature Aging.
DOI: 10.1038/s43587-024-00733-w
