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A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome

Title
A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome
Authors
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.Jin D.-K.
Ewha Authors
여성희
SCOPUS Author ID
여성희scopus
Issue Date
2011
Journal Title
American Journal of Medical Genetics, Part A
ISSN
1552-4825JCR Link
Citation
vol. 155, no. 12, pp. 2970 - 2973
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
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.
DOI
10.1002/ajmg.a.34309
Appears in Collections:
사범대학 > 과학교육과 > Journal papers
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