ArticleEndocrine2020
Polymorphism of the growth hormone gene GH1 in Polish children and adolescents with short stature.
Article in Endocrine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Utilization of genetic biomarkers for childhood stunting surveillance and early detection in Southeast Asia: a systematic review.Annals of pediatric endocrinology & metabolism · 2026Article
- Changes in Bioelectrical Impedance Analysis and Lipid Profile in Children Diagnosed with Short Stature Who Undergo Growth Hormone Therapy: One Single-Center Experience.Medicina (Kaunas, Lithuania) · 2026Article
- GH1 gene polymorphism in Polish children and adolescents with short stature - reanalysis based on diverse growth hormone secretion.Endocrine · 2026Article
- Polymorphism of the HMGA2 gene in Polish children and adolescents with short stature and diverse growth hormone secretion.Journal of applied genetics · 2025Article
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- Deficient or Normal Growth Hormone Secretion in Polish Children with Short Stature: Searching for Clinical Differences.Biomedicines · 2024Article
- Developmental enamel defects and dental anomalies of number and size in children with growth hormone deficiency.Scientific reports · 2023Article
- Major Genetic Motifs in Pituitary Adenomas: A Practical Literature Update.World neurosurgery · 2023Review
- Functional orthopedic treatment combined with differential-force technique to treat a severe mandibular retraction with growth-hormone deficiency: a case report.Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2022Article
- Clinical Implications of Growth Hormone Deficiency for Oral Health in Children: A Systematic Review.Journal of clinical medicine · 2021Review
- Study on pathogenic genes of dwarfism disease by next-generation sequencing.World journal of clinical cases · 2021Article
- Association Between Serum Calcium and Phosphorus Levels and Insulin-Like Growth Factor-1 in Chinese Children and Adolescents with Short Stature.International journal of general medicine · 2020Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
purposeShort 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.
methodsIn 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).
resultsThirteen 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.
conclusionsMutations 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.
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