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Mechanisms in endocrinology: Clinical and pharmacogenetic aspects of the growth hormone receptor polymorphism

Journal article
Authors C. L. Boguszewski
E. J. L. Barbosa
Per-Arne Svensson
Gudmundur Johannsson
Camilla A M Glad
Published in European Journal of Endocrinology
Volume 177
Issue 6
Pages R309-R321
ISSN 0804-4643
Publication year 2017
Published at Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
Institute of Health and Care Sciences
Institute of Medicine, Department of Molecular and Clinical Medicine
Pages R309-R321
Language en
Keywords growth hormone receptor, human growth hormone, isoprotein, pegvisomant, peptide fragment, recombinant protein, acromegaly, adult, adverse effects, agonists, analogs and derivatives, antagonists and inhibitors, chemically induced, child, deficiency, drug resistance, exon, gene deletion, genetic polymorphism, genetics, Growth Disorders, hormone substitution, human, metabolism, pharmacogenetic variant, Exons, Hormone Replacement Therapy, Humans, Peptide Fragments, Pharmacogenomic Variants, Polymorphism, Genetic, Protein Isoforms, Receptors, Somatotropin, Recombinant Proteins
Subject categories Pharmacology


Pharmacogenetics aims to maximize the beneficial effects of a medical therapy by identifying genetic finger prints from responders and non-responders and, thereby improving safety and efficacy profile of the drug. Most subjects who are deficient in growth hormone (GHD) are candidates for recombinant human GH (rhGH) therapy. To date, it is well established that even after adjustments for several clinical variables, such as age, gender, body composition and the age at onset of the GHD, response to rhGH treatment is highly variable among individuals, part of which is believed to be due to genetic factors within the GH system. As the first genetic variant to potentially influence the individual response to rhGH therapy in children with growth disorders, polymorphism in the GH receptor (GHR) has attracted a great interest as a target for pharmacogenetics. Studies have been conducted to compare the functional and molecular effects of the full-length GHR (fl-GHR) isoform with the exon 3 deleted (d3-GHR) isoform in children and adults treated with rhGH therapy. Additionally, the impact of the GHR polymorphism has been investigated in relation to the clinical status and response to medical treatment in acromegaly, especially to the GHR antagonist drug pegvisomant. We have performed a narrative review of the studies performed to date on the association of GHR polymorphism with rhGH response in children and adults, and its potential influence in the medical management of acromegaly. In addition, data from studies on the general population and in other chronic diseases examining a role of this genetic variant in the regulation of growth and metabolism are summarized. © 2017 European Society of Endocrinology.

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