ArticlePituitary2015
The clinical and cardiometabolic effects of d3-growth hormone receptor polymorphism in acromegaly.
Article in Pituitary, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 13 citations in OpenAlex.
- The Effect of the Exon-3-Deleted Growth Hormone Receptor on Pegvisomant-Treated Acromegaly: A Systematic Review and Meta-Analysis.Neuroendocrinology · 2017Pooled it
- Micromegaly: a distinct clinical entity? Insights from a monocentric cohort study.Frontiers in endocrinology · 2026Article
- GH receptor polymorphisms guide second-line therapies to prevent acromegaly skeletal fragility: preliminary results of a pilot study.Frontiers in endocrinology · 2024Observational
- The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism-A Favorable Backdoor Mechanism for the GHR Function.International journal of molecular sciences · 2023Review
- Clinical and hormonal findings in patients presenting with high IGF-1 and growth hormone suppression after oral glucose load: a retrospective cohort study.European journal of endocrinology · 2021Article
- Exon 3-deleted growth hormone receptor isoform is not related to worse bone mineral density or microarchitecture or to increased fracture risk in acromegaly.Journal of endocrinological investigation · 2020Article
- SOCS2 polymorphisms are not associated with clinical and biochemical phenotypes in acromegalic patients.Pituitary · 2017Article
- Growth hormone receptor exon 3 isoforms may have no importance in the clinical setting of multiethnic Brazilian acromegaly patients.Pituitary · 2016Article
- Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly.Endocrinology and metabolism (Seoul, Korea) · 2015Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeExon 3-deleted GH receptor variant (d3-GHR) is associated with increased responsiveness to exogenous GH. The aim of this study was to determine the effect of d3-GHR polymorphism on the GH/IGF-1 relationship, clinical parameters, and comorbidity in acromegalic patients.
methodsThe study included 118 acromegalic patients (61 female and 57 male; mean age: 50.3 ± 12.2 years) and 108 healthy controls (94 female and 14 male: mean age: 41.1 ± 11.1 years). The prevalence of GHR genotypes was evaluated via PCR.
resultsIn all, 71 (60.2%) patients had the fl/fl-GHR genotype, 40 (33.9%) were heterozygous for the fl/d3-GHR genotype, and 7 (5.9%) were homozygous for the d3/d3-GHR genotype. The prevalence of fl/fl-GHR, fl/d3-GHR, and d3/d3-GHR genotypes in the control group was 57.4, 29.6, and 13.0%, respectively-similar prevalences as in the patient group. Patients that were heterozygous and homozygous for the d3 allele were subgrouped (d3-GHR subgroup), and were compared to those with the fl/fl-GHR genotype (fl/fl-GHR subgroup). Anthropometric measures, features of pituitary adenoma, and baseline GH and IGF-1 levels were similar in both subgroups. The prevalence of coronary artery disease, hypertension, hyperlipidemia, type 2 diabetes mellitus, and multinodular goiter did not differ between patient subgroups. In total, 24 (20.3%) of the patients had cancer and the prevalence of cancer was similar in the d3-GHR (14.9%) and fl/fl-GHR (23.9%) subgroups (P = 0.23). More of the acromegalic patients that were d3 carriers had discordant GH and IGF-1 levels at baseline and post surgery, but the difference was not significant. A significant correlation between basal GH and IGF-1 levels was observed only in the patients with the fl/fl-GHR genotype (R(2) = 0.227, P < 0.001).
conclusionThe d3-GHR variant genotype did not have an effect on clinical features or comorbidity in acromegalic patients, but it might play a role in GH/IGF-1 level discordance in acromegaly.
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