Sung Won Park and Seung-Tae Lee contributed equally to this study.
Article first published online: 3 NOV 2011
Copyright © 2011 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 155, Issue 12, pages 2970–2973, December 2011
How to Cite
Park, S. W., Lee, S.-T., Sohn, Y. B., Kim, S. H., Cho, S.-Y., Ko, A.-r., Ji, S.-T., Kwon, J.-Y., Yeau, S., Paik, K.-H., Kim, J.-W. and Jin, D.-K. (2011), A polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome. Am. J. Med. Genet., 155: 2970–2973. doi: 10.1002/ajmg.a.34309
How to Cite this Article: Park SW, Lee S-T, Sohn YB, Kim SH, Cho S-Y, Ko A-r, Ji S-T, Kwon J-Y, Yeau S, Paik K-H, Kim J-W, Jin D-K. 2011. A Polymorphism in the growth hormone receptor is associated with height in children with Prader–Willi syndrome. Am J Med Genet Part A 155: 2970–2973.
- Issue published online: 21 NOV 2011
- Article first published online: 3 NOV 2011
- Manuscript Accepted: 20 AUG 2011
- Manuscript Received: 6 FEB 2011
- Samsung Genomic Center Research Fund. Grant Number: D-B0-007-1
- growth hormone receptor;
- Prader–Willi syndrome;
- insulin-like growth factor-I
The exon-3 deletion polymorphism (d3, Database of Genomic Variants ID: Variation_64191) in the growth hormone receptor (GHR) gene is associated with increased growth response to growth hormone (GH) therapy in GH-deficient patients. However, an association of the GHR genotype with height has not yet been reported in Prader–Willi syndrome (PWS). The aim of this study was to assess the association of GHR alleles with height before starting GH therapy in patients with PWS. Seventy-four patients with PWS were genotyped and their medical records were retrospectively reviewed (45 males and 29 females, median age 8.7 years). One hundred normal controls, with known final height, were also genotyped. The GH-exon 3 locus was genotyped using a PCR multiplex assay. The distribution of alleles in the patients with PWS was not different from controls [(fl/fl n = 53 (72%), fl/d3 n = 21 (28%)) in PWS vs. (fl/fl n = 72(72%), fl/d3 n = 26(26%), and d3/d3 n = 2(2%)]. However, patients with PWS carrying a d3 allele had significantly greater height standard deviation scores (SDS) (P = 0.025) and higher insulin-like growth factor I (IGF-I) level (P = 0.041), although the age at the start of GH therapy, weight, BMI, and body fat were not different. The d3 allele was associated with height and IGF-I levels before GH therapy and suggests that even before GH therapy, d3 allele may influence height through GH secretion. © 2011 Wiley Periodicals, Inc.