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). MATERIALS AND 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. CONCLUSION: This finding supports that the GHR might be a candidate gene for mandibular morphogenesis in this population.
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). MATERIALS AND 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. CONCLUSION: This finding supports that the GHR might be a candidate gene for mandibular morphogenesis in this population.
Authors: A D Goddard; R Covello; S M Luoh; T Clackson; K M Attie; N Gesundheit; A C Rundle; J A Wells; L M Carlsson Journal: N Engl J Med Date: 1995-10-26 Impact factor: 91.245
Authors: Antonio Jiménez-Silva; Romano Carnevali-Arellano; Sheilah Vivanco-Coke; Julio Tobar-Reyes; Pamela Araya-Díaz; Hernán Palomino-Montenegro Journal: Clin Exp Dent Res Date: 2020-12-04
Authors: John R Shaffer; Ekaterina Orlova; Myoung Keun Lee; Elizabeth J Leslie; Zachary D Raffensperger; Carrie L Heike; Michael L Cunningham; Jacqueline T Hecht; Chung How Kau; Nichole L Nidey; Lina M Moreno; George L Wehby; Jeffrey C Murray; Cecelia A Laurie; Cathy C Laurie; Joanne Cole; Tracey Ferrara; Stephanie Santorico; Ophir Klein; Washington Mio; Eleanor Feingold; Benedikt Hallgrimsson; Richard A Spritz; Mary L Marazita; Seth M Weinberg Journal: PLoS Genet Date: 2016-08-25 Impact factor: 5.917