Observational studyThe Journal of clinical endocrinology and metabolism2020
A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness.
Observational study in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed, 24 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
- Phenotypic and genotypic diversity in patients with Chinese aggrecan gene-related short stature.Pediatric research · 2026Article
- Protein expression profiling of lenvatinib-resistant liver cancer cells and identify B4GALT4 as a critical drug resistance molecule.Discover oncology · 2026Article
- Causal relationships between inflammatory mediators, sleep traits, and cardiac magnetic resonance imaging-derived cardiac phenotypes.Scientific reports · 2025Article
- The clinical and genetic aspects of six individuals withFrontiers in endocrinology · 2024Article
- Applying polygenic risk score methods to pharmacogenomics GWAS: challenges and opportunities.Briefings in bioinformatics · 2023Article
- The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism-A Favorable Backdoor Mechanism for the GHR Function.International journal of molecular sciences · 2023Review
- Human height: a model common complex trait.Annals of human biology · 2023Review
- Differentially methylated CpGs in response to growth hormone administration in children with idiopathic short stature.Clinical epigenetics · 2022Article
- Sex-specific phenotypic effects and evolutionary history of an ancient polymorphic deletion of the human growth hormone receptor.Science advances · 2021Article
- Pharmacogenomics applied to recombinant human growth hormone responses in children with short stature.Reviews in endocrine & metabolic disorders · 2021Review
- Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness".The Journal of clinical endocrinology and metabolism · 2021Article
- Short and Long-Term Effects of Growth Hormone in Children and Adolescents With GH Deficiency.Frontiers in endocrinology · 2021Review
- Digital Health for Supporting Precision Medicine in Pediatric Endocrine Disorders: Opportunities for Improved Patient Care.Frontiers in pediatrics · 2021Review
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Authors and funding
14 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextIndividual patients vary in their response to growth hormone (GH). No large-scale genome-wide studies have looked for genetic predictors of GH responsiveness.
objectiveTo identify genetic variants associated with GH responsiveness.
designGenome-wide association study (GWAS).
settingCohorts from multiple academic centers and a clinical trial. PATIENTS: A total of 614 individuals from 5 short stature cohorts receiving GH: 297 with idiopathic short stature, 276 with isolated GH deficiency, and 65 born small for gestational age.
interventionAssociation of more than 2 million variants was tested.
main outcome measuresPrimary analysis: individual single nucleotide polymorphism (SNP) association with first-year change in height standard deviation scores. Secondary analyses: SNP associations in clinical subgroups adjusted for clinical variables; association of polygenic score calculated from 697 genome-wide significant height SNPs with GH responsiveness.
resultsNo common variant associations reached genome-wide significance in the primary analysis. The strongest suggestive signals were found near the B4GALT4 and TBCE genes. After meta-analysis including replication data, signals at several loci reached or retained genome-wide significance in secondary analyses, including variants near ST3GAL6. There was no significant association with variants previously reported to be associated with GH response nor with a polygenic predicted height score.
conclusionsWe performed the largest GWAS of GH responsiveness to date. We identified 2 loci with a suggestive effect on GH responsiveness in our primary analysis and several genome-wide significant associations in secondary analyses that require further replication. Our results are consistent with a polygenic component to GH responsiveness, likely distinct from the genetic regulators of adult height.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.