Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.

ABSTRACT:

Purpose

Short stature in children is a significant medical problem which, without proper diagnosis and treatment, can lead to long-term consequences for physical and psychological health in adult life. Since human height is a polygenic and highly heritable trait, numerous variants in the genes involved in growth-including the growth hormone (GH1) gene-have been identified as causes of short stature.

Methods

In this study, we performed for the first time molecular analysis of the GH1 gene in a cohort (n = 186) of Polish children and adolescents with short stature, suffering from growth hormone deficiency (GHD) or idiopathic short stature (ISS), and a control cohort (n = 178).

Results

Thirteen SNP variants were identified, including four missense variants, six in 5'UTR,

SUBMITTER: Majewska KA 

PROVIDER: S-EPMC7343724 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature