17th July 2024 – by Aaruthy Suthahar
In a study published in Nature Genetics, researchers conducted the largest-ever investigation into the genetic determinants of pubertal timing in girls, analysing data from approximately 800,000 women worldwide. This study has identified 1,080 genetic signals associated with the age at menarche (the first menstrual cycle in females), significantly advancing our understanding of the genetic influences on puberty and its links to later health outcomes.
TwinsUK, which provided data from around 6,000 twin participants, played a great role in this large-scale study. The inclusion of twins’ genetic information allowed researchers to delve deeper into the hereditary patterns and environmental interactions that influence pubertal timing.
The study found that women with very high or very low genetic risk had much higher chances of experiencing puberty either very late or very early. Specifically, women in the top 1% of genetic risk were 11 times more likely to have delayed puberty, while those in the bottom 1% were 14 times more likely to have early puberty. Researchers also found that some rare genetic changes, especially in the ZNF483 gene, could cancel out the effect of overall genetic risk.
The study also discovered 665 genes linked to when puberty starts, including the GPR83 gene, which helps the body detect changes in nutrition and send hormonal signals. The results suggest a link between the timing of puberty and menopause, pointing to a shared mechanism in the ovaries that might influence both stages of life.
The study has garnered significant media attention, with detailed coverage provided by the University of Cambridge. For more information, you can read the Cambridge press release HERE.
TwinsUK participants can take pride in knowing that their contributions are helping to advance scientific knowledge in critical areas of health and development. The findings from this study not only enhance our understanding of puberty but also open up potential avenues for addressing related health issues in the future.
For further details on the study, you can access the full article in Nature Genetics HERE.
