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Comparative Analysis of Human Growth Hormone in Serum Using SPRi, Nano-SPRi and ELISA Assays
Published on: January 7, 2016
Correlation between exon 3 polymorphism of growth hormone receptor gene and the responses to rhGH therapy
Ying Wei1, Rongxiu Zheng1, Yuhui Zhou1
1Department of Paediatrics, General Hospital of Tianjin Medical University Tianjin 300052, China.
Insights
The GHRd3 genotype is linked to better responses in children receiving recombinant human growth hormone (rhGH) therapy for short stature. Early treatment and the GHRd3 genotype improve rhGH therapy effectiveness.
Area of Science:
- Genetics
- Endocrinology
- Pediatrics
Background:
- Short stature in children can stem from growth hormone deficiency (GHD) or idiopathic short stature (ISS).
- Recombinant human growth hormone (rhGH) therapy is a standard treatment, but individual responses vary.
- The growth hormone receptor (GHR) gene, particularly exon 3, plays a role in growth hormone signaling and may influence treatment outcomes.
Purpose of the Study:
- To investigate the association between the exon 3 polymorphism of the growth hormone receptor (GHR) gene and treatment response to rhGH in children with short stature.
- To evaluate if GHR gene polymorphism, GHD status, and treatment duration correlate with rhGH therapy efficacy.
Main Methods:
- A cohort of 70 children (45 GHD, 25 ISS) undergoing rhGH therapy for at least 12 months was studied.
- GHR exon 3 polymorphism was determined using multiple PCR amplification.
- Growth velocity (GV) and treatment efficiency were assessed in relation to GHR genotype, GHD, and treatment duration.
Main Results:
- Children with the GHRd3 genotype showed significantly higher growth velocity (GV) compared to the GHRfl genotype in both GHD and ISS groups.
- In patients with a peak GH response > 5 ng/ml, the GHRd3 genotype was associated with a satisfactory response to rhGH therapy compared to GHRfl.
- No significant effect of GHD on final height was observed within the same genotype group.
Conclusions:
- The GHRd3 genotype is a significant predictor of response to rhGH therapy in children with short stature.
- A satisfactory response to rhGH therapy is more likely in children with the GHRd3 genotype, especially those with a peak GH response > 5 ng/ml.
- Initiating rhGH therapy at an earlier age appears to enhance treatment efficiency.
Objective:
To investigate the correlation between the exon 3 polymorphism of growth hormone receptor (GHR) gene and the responses to the recombinant human growth hormone (rhGH) therapy in children with short stature.
Methods:
Forty-five growth hormone deficiency (GHD) children (male: 30, female: 15, aged 10.39 ± 2.73 yrs) and twenty-five idiopathic short stature (ISS) children (male: 15, female: 10, aged 10.58 ± 2.56 yrs) admitted to our hospital were included. The polymorphism of exon 3 of GHR gene was determined using multiple PCR amplification. Treatment duration for each subject was at least 12 months. On this basis, we evaluated the correlation between treatment efficiency of rhGH therapy and GHR exon 3 polymorphism, GHD, and treatment duration.
Results:
Significant difference was noted in the growth velocity (GV) of GHD children with a genotype of GHRfl compared with those with a genotype of GHRd3 (9.44 ± 2.35 vs. 11.36 ± 2.49, P < 0.05). Meanwhile, the GV of ISS patients with a genotype of GHRfl were remarkably decreased compared with those with a genotype of GHRd3 (8.74 ± 2.36 vs. 11.18 ± 2.44, P < 0.05). For the children with peak GH response of less than 5 ng/ml, statistical difference was noted in the GV of children with a genotype of GHRfl compared with those with a genotype of GHRd3 (9.55 ± 2.76 vs. 10.84 ± 1.53, P < 0.05). For the patients with peak GH response to clonidine or pyridostigmine bromide of > 5 ng/ml, a satisfactory response to rhGH therapy was noted in children with a genotype of GHRd3 compared with those of GHRfl (P < 0.05).
Conclusions:
GHRd3 was correlated with the response to rhGH therapy in children with short stature. For the patients with the same genotype, GHD caused no obvious effects on the final height. However, for the patients with peak GH response of > 5 ng/ml, a satisfactory response to rhGH therapy was noted in children with a genotype of GHRd3 compared with those of GHRfl (P < 0.05). A higher treatment efficiency was obtained in those received rhGH at an early age.
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