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. 2020 Jul;69(1):157-164.
doi: 10.1007/s12020-020-02305-5. Epub 2020 Apr 27.

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

Katarzyna Anna Majewska  1 , Andrzej Kedzia  1 , Przemyslaw Kontowicz  2 , Magdalena Prauzinska  3 , Jaroslaw Szydlowski  3 , Marek Switonski  2 , Joanna Nowacka-Woszuk  4
Affiliations

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

Katarzyna Anna Majewska et al. Endocrine. 2020 Jul.

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, and three in introns. The frequency of minor missense variants was low (<0.02) and similar in the compared cohorts. However, two of these variants, Ala39Val (rs151263636) and Arg42Leu (rs371953554), were found (heterozygote status) in only two GHD patients. These substitutions, according to databases, can potentially be deleterious.

Conclusions: Mutations of GH1 causing short stature are very rare in the Polish population, but two potentially causative variants need further studies in a larger cohort of GHD patients.

Keywords: GH1 gene; Growth hormone deficiency (GHD); Idiopathic short stature (ISS); Mutation; SNP; Sequencing.

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Conflict of interest statement

The authors declare that they have no conflict of interest.

Figures

Fig. 1
Fig. 1
Sequencing of missense variants (in red frames) in exon 2 of GH1 gene: a rs151263636, and b rs371953554 in two different GHD patients
Fig. 2
Fig. 2
Pedigrees of the studied families in which rs151263636 (a) and rs371953554 (b) variants segregated. The genotypes are given in a square or circle—according to sex. Heights in cm and height standard deviation score (in brackets) are given for all members. Patient heights were measured after growth hormone treatment
See this image and copyright information in PMC

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