Insights into the Genetic Underpinnings of Endocrine Traits from Large-Scale Genome-Wide Association Studies

Abstract

Great strides have been made in genetic association studies of endocrine traits and diseases, with hundreds or thousands of variants associated with height, body mass index, bone density, pubertal timing, and diabetes in recent years. The common variants associated with these traits explain up to half of the trait variation owing to genetic factors, and when aggregated into polygenic risk scores, can also impact clinically relevant phenotypes at the tail ends of the trait distributions. However, pediatric studies tend to lag behind, and it is often unclear how adult-associated variants behave across life.

Keywords: BMI; Bone density; Diabetes; Endocrine traits; Genome-wide association studies; Height; Puberty.