Impact of the growth hormone receptor exon 3 deletion gene polymorphism on glucose metabolism, lipids, and insulin-like growth factor-I levels during puberty

J Clin Endocrinol Metab. 2009 Aug;94(8):2966-9. doi: 10.1210/jc.2009-0313. Epub 2009 May 5.

Abstract

Context: The GH/IGF-I axis has major impact on insulin sensitivity and insulin secretion. Recently a polymorphism in the GH receptor gene (GHR), a genomic deletion of exon 3 (GHRd3), has been linked to increased responsiveness to GH.

Objective: The objective of the present study was to evaluate the impact of the GHRd3 gene polymorphism on insulin sensitivity, insulin secretion, lipids, and IGF-I levels in healthy children and adolescents.

Design: This was cross-sectional and was part of the COPENHAGEN puberty study.

Setting: The study was conducted at a tertiary center for pediatric endocrinology.

Participants: Participants included 142 healthy Caucasian subjects (65 boys) aged 8.5-16.1 yr.

Interventions: Standard 2-h oral glucose tolerance tests were preformed. GHR genotypes were determined by multiplex PCR. Main outcome measures were insulin sensitivity, insulin secretion, serum lipids, and IGF-I levels.

Results: Insulin secretion was higher in children and adolescents with a least one GHRd3 allele, even after adjustment for age, sex, pubertal stage, and insulin sensitivity (P = 0.018). Disposition index was higher in GHRd3-positive subjects (P = 0.026). In addition, the GHRd3 allele was associated with higher triglyceride (P = 0.028), but not IGF-I levels.

Conclusion: The presence of at least one GHRd3 allele was associated with higher insulin secretion for a given degree of insulin sensitivity in healthy children and adolescents during puberty. In addition, the presence of the GHRd3 allele was associated with a higher disposition index. Thus, this common polymorphism in the GHR gene might play a role for pancreatic beta-cell compensatory capacity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Alleles
  • Child
  • Cross-Sectional Studies
  • Exons
  • Female
  • Gene Deletion
  • Glucose / metabolism*
  • Humans
  • Insulin / metabolism
  • Insulin Secretion
  • Insulin-Like Growth Factor I / analysis*
  • Male
  • Polymorphism, Genetic*
  • Puberty / genetics*
  • Puberty / metabolism
  • Receptors, Somatotropin / genetics*
  • Triglycerides / blood*

Substances

  • Insulin
  • Receptors, Somatotropin
  • Triglycerides
  • Insulin-Like Growth Factor I
  • Glucose