AI Article Synopsis
- The response to recombinant human growth hormone (r-hGH) in children with growth hormone deficiency (GHD) is linked to specific genetic variations known as single-nucleotide polymorphisms (SNPs).
- Researchers identified four SNPs that influence the transcriptional activity (TA) of genes associated with growth, showing that certain alleles lead to better growth outcomes.
- Among these SNPs, three variants correlated with improved TA after r-hGH treatment, while one variant negatively impacted TA, suggesting these genetic factors play a crucial role in predicting the effectiveness of r-hGH therapy in enhancing growth.
Article Abstract
Response to recombinant human growth hormone (r-hGH) in the first year of therapy has been associated with single-nucleotide polymorphisms (SNPs) in children with GH deficiency (GHD). Associated SNPs were screened for regulatory function using a combination of in silico techniques. Four SNPs in regulatory sequences were selected for the analysis of in vitro transcriptional activity (TA). There was an additive effect of the alleles in the four genes associated with good growth response. For rs3110697 within IGFBP3, rs1045992 in CYP19A1 and rs2888586 in SOS1, the variant associated with better growth response showed higher TA with r-hGH treatment. For rs1024531 in GRB10, a negative regulator of IGF-I signalling and growth, the variant associated with better growth response had a significantly lower TA on r-hGH stimulation. These results indicate that specific SNP variants have effects on TA that provide a rationale for their clinical impact on growth response to r-hGH therapy.
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| http://dx.doi.org/10.1038/s41397-018-0026-4 | DOI Listing |
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