ArticleJournal of cellular and molecular medicine2017
Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 25 citations in OpenAlex.
- The regulatory effects of growth hormone on adipose tissue at physiological and pathological levels and its relationship with obesity.International journal of obesity (2005) · 2026Review
- The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism-A Favorable Backdoor Mechanism for the GHR Function.International journal of molecular sciences · 2023Review
- A Recurrent Mutation in Growth Hormone Receptor (The Yale journal of biology and medicine · 2023Article
- Reporting a novel growth hormone receptor gene variant in an Iranian consanguineous pedigree with Laron syndrome: a case report.BMC endocrine disorders · 2023Article
- Short stature related to Growth Hormone Insensitivity (GHI) in childhood.Frontiers in endocrinology · 2023Review
- LCN2 is a new diagnostic biomarker and potential therapeutic target in idiopathic short stature.Journal of cellular and molecular medicine · 2022Article
- Mutations inGenes · 2022Review
- Editorial: Novel Insights Into the Genetics of Growth Disorders.Frontiers in genetics · 2022Article
- Bioactive peptides identification and nutritional status ameliorating properties on malnourished rats of combined eel and soy-based tempe flour.Frontiers in nutrition · 2022Article
- A Novel Diagnostic Predictive Model for Idiopathic Short Stature in Children.Frontiers in endocrinology · 2021Article
- Hsa_circularRNA_0079201 suppresses chondrocyte proliferation and endochondral ossification by regulating the microRNA‑140‑3p/SMAD2 signaling pathway in idiopathic short stature.International journal of molecular medicine · 2020Article
- Genomic structure and characterization of growth hormone receptors from golden pompano Trachinotus ovatus and their expression regulation by feed types.Fish physiology and biochemistry · 2019Article
- Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action.Endocrine reviews · 2019Review
- A Polymorphic (CT)Frontiers in genetics · 2019Article
- Growth Hormone Receptor Mutations Related to Individual Dwarfism.International journal of molecular sciences · 2018Review
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GH plays an essential role in the growing child by binding to the growth hormone receptor (GHR) on target cells and regulating multiple growth promoting and metabolic effects. Mutations in the GHR gene coding regions result in GH insensitivity (dwarfism) due to a dysfunctional receptor protein. However, children with idiopathic short stature (ISS) show growth impairment without GH or GHR defects. We hypothesized that decreased expression of the GHR gene may be involved. To test this, we investigated whether common genetic variants (microsatellites, SNPs) in regulatory regions of the GHR gene region were associated with the ISS phenotype. Genotyping of a GT-repeat microsatellite in the GHR 5'UTR in a Montreal ISS cohort (n = 37 ISS, n = 105 controls) revealed that the incidence of the long/short (L/S) genotype was 3.3× higher in ISS children than controls (P = 0.04, OR = 3.85). In an Italian replication cohort (n = 143 ISS, n = 282 controls), the medium/short (M/S) genotype was 1.9× more frequent in the male ISS than controls (P = 0.017, OR = 2.26). In both ISS cohorts, logistic regression analysis of 27 SNPs showed an association of ISS with rs4292454, while haplotype analysis revealed specific risk haplotypes in the 3' haploblocks. In contrast, there were no differences in GT genotype frequencies in a cohort of short stature (SS) adults versus controls (CARTaGENE: n = 168 SS, n = 207 controls) and the risk haplotype in the SS cohort was located in the most 5' haploblock. These data suggest that the variants identified are potentially genetic markers specifically associated with the ISS phenotype.
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