AI Article Synopsis
- Growth hormone deficiency (GHD) is treated with recombinant human GH (rhGH), but individual responses to the treatment can differ due to genetic factors.
- Researchers analyzed genetic polymorphisms in 101 pediatric GHD patients to identify variants that might predict how well they respond to rhGH therapy.
- They found significant associations between two specific genetic variations (SNPs) and an exon 3 deletion with the treatment response, suggesting that genetic testing could help personalize GHD treatment.
Article Abstract
Growth hormone (GH) deficiency (GHD) is commonly treated with recombinant human GH (rhGH). Individual response to rhGH therapy varies widely and there is evidence that variations in growth-related genes, e. g. the GH receptor (GHR) gene, may impact treatment response. We aimed to identify genetic polymorphisms which could serve as predictive markers of response to rhGH therapy. We conducted a genetic analysis of single nucleotide polymorphisms (SNPs) and the exon 3 deletion in 101 paediatric GHD patients receiving rhGH. Patients were analysed for 13 known SNPs in 11 genes of the GH axis (), growth plate () and cell cycle (). Individual index of responsiveness (IoR) values were compared by genotype. We also analysed the potential association between the IoR and the GHR exon 3 deletion. IoRs were analysed by genotype by one-way analysis of variance and unpaired t-test. Variations in two SNPs, rs2888586 () and rs2069502 (), and the exon 3 deletion were significantly associated with response to rhGH treatment. Genetic variations are potentially suitable as predictive markers of rhGH treatment response in GHD. Genetic analysis provides a starting point for individualised treatment of GHD.
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| http://dx.doi.org/10.1055/s-0043-115223 | DOI Listing |
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