An international team of scientists has identified genetic factors that can indirectly influence the age at which girls experience their first menstrual period by accelerating weight gain in childhood. This groundbreaking research was led by the University of Cambridge and involved the analysis of DNA from approximately 800,000 women across Europe, North America, China, Japan, and Korea.
The study, published in the journal Nature Genetics, revealed over 1,000 DNA variants that affect the age at which girls begin menstruation. Remarkably, around 600 of these variants were newly identified by the researchers. The typical age range for the onset of menstruation is between 10 and 15 years, but there has been a notable trend towards earlier onset in recent decades.
While the exact reasons for this shift remain unclear, the study highlights a significant genetic component. About 45% of the discovered genetic variants influence puberty indirectly by promoting weight gain in early childhood. “Many of the genes we’ve found influence early puberty by first accelerating weight gain in infants and young children. This can then lead to potentially serious health problems in later life, as having earlier puberty leads to higher rates of overweight and obesity in adulthood,” explained Professor John Perry from the University of Cambridge’s Medical Research Council (MRC) Epidemiology Unit.
The researchers also examined rare genetic variants that, while carried by very few individuals, have substantial effects on the timing of puberty. For instance, they discovered that approximately one in 3,800 women carry variants in the gene ZNF483, which is associated with a delayed onset of puberty by an average of 1.3 years.
Dr. Katherine Kentistou, the lead investigator of the study, noted the profound impact of these genetic discoveries. “We identified six genes which all profoundly affect the timing of puberty,” she said. Additionally, these genes were found to influence the timing of puberty in boys similarly, indicating a broader relevance of the findings.
This research not only advances our understanding of the genetic underpinnings of puberty but also underscores the complex interplay between genetics and environmental factors in childhood development. The identification of these genes opens new avenues for exploring potential interventions to address early puberty and its associated health risks.