title: A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome.
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.
authors: Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors: Sung Won
authors: SW
authors: Park
authors: Seung-Tae
authors: ST
authors: Lee
authors: Young Bae
authors: YB
authors: Sohn
authors: Se Hwa
authors: SH
authors: Kim
authors: Sung-Yoon
authors: SY
authors: Cho
authors: Ah-Ra
authors: AR
authors: Ko
authors: Sun-Tae
authors: ST
authors: Ji
authors: Jeong-Yi
authors: JY
authors: Kwon
authors: Sunghee
authors: S
authors: Yeau
authors: Kyung-Hoon
authors: KH
authors: Paik
authors: Jong-Won
authors: JW
authors: Kim
authors: Dong-Kyu
authors: DK
authors: Jin
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001827:Body Height / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype; D011110:Polymorphism, Genetic; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011986:Receptors, Somatotropin / Q000235:genetics*; D055815:Young Adult
chemical_list: D011986:Receptors, Somatotropin