title: GHR and VDR genes do not contribute to the growth hormone (GH) response in GH deficient and Turner syndrome patients.
abstract: We have prospectively assessed the influence of GHR and VDR gene polymorphisms on the response to rhGH therapy in Venezuelan children with growth hormone deficiency (GHD, n=28) and Turner syndrome (TS, n=25). Clinical data during rhGH treatment were compared in GH and TS patients with different genotypes. PCR amplifications were performed to obtain the genotype frequencies of the polymorphisms. Clinical data at the start of treatment and rhGH doses were indistinguishable among patients with GHD or TS with different GHR or VDR genotypes. After the first two years of rhGH treatment, clinical data in both GHD and TS patients were not different according GHR or VDR genotypes. In addition, there was no significant difference among the subjects when both these genotypes were combined. Gene polymorphisms in low penetrance genes do not contribute to the rhGH therapy response in patients with GHD and TS.
authors.affiliation: Unidad de Genética Médica, Universidad del Zulia, Maracaibo, Venezuela. falvareznava@yahoo.com
authors.forename: Francisco
authors.initials: F
authors.lastname: Alvarez-Nava
authors.forename: Henry
authors.initials: H
authors.lastname: Marcano
authors.forename: Tatiana
authors.initials: T
authors.lastname: Pardo
authors.forename: Mariela
authors.initials: M
authors.lastname: Paoli
authors.forename: Peter
authors.initials: P
authors.lastname: Gunczler
authors.forename: Marisol
authors.initials: M
authors.lastname: Soto
authors.forename: Joalice
authors.initials: J
authors.lastname: Villaloboss
authors.forename: Roberto
authors.initials: R
authors.lastname: Lanes
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004393:Dwarfism, Pituitary / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005838:Genotype; D019382:Human Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D018167:Receptors, Calcitriol / Q000235:genetics*; D011994:Recombinant Proteins; D016896:Treatment Outcome; D014424:Turner Syndrome / Q000188:drug therapy / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D018167:Receptors, Calcitriol; D011994:Recombinant Proteins; D019382:Human Growth Hormone; C051815:somatotropin-binding protein