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Growth hormone receptor (GHR) gene polymorphism and Prader-Willi syndrome

Merlin G Butler1, Jennifer Roberts, Jena Hayes

  • 1Department of Psychiatry and Behavioral Sciences, Kansas University Medical Center, Kansas City, KS 66160, USA. mbutler4@kumc.edu

American Journal of Medical Genetics. Part A
|May 23, 2013
PubMed

Insights

Prader-Willi syndrome (PWS) patients with the growth hormone receptor (GHR) d3 allele show increased BMI and a 1.7x higher growth rate during growth hormone (GH) therapy. Further investigation into the d3 allele

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder affecting the 15q11-q13 region.
  • Growth hormone receptor (GHR) gene polymorphism, specifically an exon-3 deletion (d3), is common in Caucasians.
  • This GHR polymorphism is linked to an enhanced response to growth hormone (GH) therapy.

Purpose of the Study:

  • To investigate the association between GHR exon-3 deletion (d3) polymorphism and clinical outcomes in individuals with PWS.
  • To evaluate the impact of the d3 allele on growth and body mass index (BMI) in PWS patients, particularly during GH treatment.

Main Methods:

  • Studied 69 individuals with PWS (average age 20.1 years) to analyze GHR allele distribution.
  • Correlated age with height, weight, and BMI in non-GH treated PWS subjects.
  • Examined 12 infants and children with PWS for growth rate changes before and during GH therapy, comparing d3 allele carriers with non-carriers.

Main Results:

  • GHR allele distribution in PWS subjects was consistent with general Caucasian populations.
  • Individuals with PWS and the d3/d3 allele showed a significant increase in BMI compared to those with the full-length (fl) allele, after adjusting for age and gender.
  • PWS patients with the d3 allele exhibited a 1.7-fold increase in growth rate during GH therapy (1.5 cm/month vs. 0.87 cm/month).

Conclusions:

  • The GHR d3 allele is associated with increased BMI in individuals with PWS.
  • The d3 allele significantly enhances growth response to GH therapy in pediatric PWS patients.
  • Further research is warranted to understand the full impact of the GHR d3 allele on PWS management and long-term outcomes.

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