A polygenic score for height identifies an unmeasured genetic predisposition among pediatric patients with idiopathic short stature.

ABSTRACT:

Background

A subset of children with short stature do not have an identified clinical explanation after extensive diagnostic evaluation. We hypothesized that a polygenic score for height (PGS_height) could identify children with non-familial idiopathic short stature (ISS-NF) who carry a polygenic predisposition to shorter height that is not accounted for by existing measures.

Methods

We studied 534 pediatric participants in an electronic health record (EHR)-linked DNA biobank (BioVU) who had been evaluated for short stature by an endocrinologist. Participants were classified as having one of five short stature subtypes: primary growth disorders, secondary growth disorders, idiopathic short stature (ISS), which was sub-classified into familial (ISS-F) and non-famili

SUBMITTER: Shelley JP 

PROVIDER: S-EPMC11924680 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature