Genes Influencing Puberty and Their Impact on Adult Health
Genetic variation is at the center of many critical processes influencing an individual’s lifetime risk for disease. The advent of high-throughput technologies, facilitating unbiased genome-wide exploration, has provided tools for the systematic identification of genetic loci underlying both complex and familial disorders.
Our group has chosen to capitalize unique and longitudinally characterized Finnish population and patient cohorts to characterize the genetic framework of two separate traits, i.e. pubertal maturation and cardiac arrhythmia. Puberty is one of the most important milestones in life. Yet, the molecular events controlling its timely onset have remained poorly understood. Whereas extremely late or early puberty is a common cause for referral to pediatric specialists, variation in pubertal growth and timing also correlates with adult disease risk.
While puberty represents a multifactorial trait with a complex underlying genetic structure, familial life-threatening arrhythmia disorder is an example of Mendelian or oligogenic disease. Even if multiple causative mutations have been identified, there still are many families and individuals carrying unknown mutations. Their identification would allow for efficient pre-symptomatic molecular diagnosis and targeted prevention of arrhythmia.
We hypothesize that genes influencing pubertal variation can be identified by genetic mapping approaches, and that the identification of these genes will increase our understanding of normal growth and maturation and shed light on the mechanisms linking pubertal timing with adult onset disease. Our main strategy is to identify genetic variants influencing pubertal growth and timing in both sexes utilizing genome-wide association analyses of unique longitudinal population cohorts.
Our second aim is to pinpoint and characterize novel mutations underlying life-threatening arrhythmia to provide means for improved molecular screening. To identify these genes and mutations, our plan is to apply exome-wide sequencing of Finnish patients from a large clinical sample collection.