B4329 - Identifying Genetic and Non-Genetic Factors that Influence Age at Menarche - 24/05/2023
This projects seeks to deepen our understanding of how the timing of puberty affects adult health outcomes, specifically, risk of cardiovascular disease (CVD). The age at which a girl gets her first menstrual period (age at menarche, or AAM) has a peculiar relationship with CVD: both earlier and later AAM are associated with increased risk of CVD in adulthood.
In preliminary work focusing on later AAM, we applied human genetic techniques to distinguish the effects of common genetic changes on AAM from the effects of other, yet-to-be-identified factors. We were surprised to find that the relationship between later AAM and CVD depends on the underlying cause of later AAM. If caused by common genetic changes, later AAM is actually associated with _lower_ risk of cardiovascular disease. In contrast, if caused by other factors, later AAM is associated with _increased_ risk of cardiovascular disease.
The broad goals of this project are 1) to better understand how common genetic changes affect AAM by subgrouping common genetic variants based on their effects on childhood factors known to affect AAM, and 2) to identify factors other than common genetic changes that influence AAM.