title: Relationship between P561T and C422F polymorphisms in growth hormone receptor gene and mandibular prognathism.
abstract: OBJECTIVE
  To evaluate the allele and genotype frequencies of the P561T and C422F polymorphic sites of the growth hormone receptor (GHR) gene and the relationship between mandibular prognathism (MP) and these two single-nucleotide polymorphisms (SNPs).
  
  
  METHODS
  A total of 99 subjects with severe skeletal Class III MP who planned to undergo orthognathic surgery and 99 subjects with Class I occlusion were examined in this study to evaluate the relationship between MP and two SNPs in exon 10 of the GHR gene. GHR was chosen as a candidate gene because growth hormone plays an important role in cartilage growth. A blood sample was used to extract genomic DNA, and the polymerase chain reaction-restriction fragment length polymorphism method was used to determine genotypes of P561T and C422F. The Minitab 14.0 packet program was used to perform statistical analysis.
  
  
  RESULTS
  Allele frequencies of the C422F and P561T variants were determined. Because of the low allele frequency of the control group, statistical analysis could not be performed to test the difference between MP and control groups. Therefore, the data were combined to determine the association between the P561T polymorphism and craniofacial measurements. Effective mandibular length (condylion-gnathion) and lower face height (anterior nasal spina-menton) were associated with the P561T variant.
  
  
  CONCLUSIONS
  This finding supports that the GHR might be a candidate gene for mandibular morphogenesis in this population.
authors.affiliation: a  Postgraduate student, Department of Orthodontics, Faculty of Dentistry, Selcuk University, Konya, Turkey.
authors.forename: Sinem
authors.initials: S
authors.lastname: Bayram
authors.forename: Faruk Ayhan
authors.initials: FA
authors.lastname: Basciftci
authors.forename: Ercan
authors.initials: E
authors.lastname: Kurar
mesh_terms: D002508:Cephalometry / Q000379:methods; D002680:Chin / Q000473:pathology; D003062:Codon / Q000235:genetics; D003545:Cysteine / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008297:Male; D008313:Malocclusion, Angle Class III / Q000235:genetics; D008334:Mandible / Q000473:pathology; D008335:Mandibular Condyle / Q000473:pathology; D008437:Maxilla / Q000473:pathology; D009295:Nasal Bone / Q000473:pathology; D010649:Phenylalanine / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011378:Prognathism / Q000235:genetics*; D011392:Proline / Q000235:genetics*; D011986:Receptors, Somatotropin / Q000235:genetics*; D013912:Threonine / Q000235:genetics*; D014716:Vertical Dimension; D055815:Young Adult
chemical_list: D003062:Codon; D011986:Receptors, Somatotropin; D013912:Threonine; D010649:Phenylalanine; D011392:Proline; D003545:Cysteine
keywords: Growth hormone receptor; Mandibular prognathism; Single-nucleotide polymorphism