Association of the P561T and C422F polymorphisms of the growth hormone receptor gene with facial dimensions

Abstract

Background: Growth hormone plays a significant role in determining craniofacial morphology. Mutations of its receptor gene might be associated with mandibular prognathism (MP). Purpose: The aim of the current study was to evaluate growth hormone receptor (GHR) gene polymorphisms in relation to facial dimensions. Material and Method: The study enrolled 65 participants with class III profile in MP group and 60 orthognathic control participants. Genomic DNA was extracted from a blood sample from the patients and the P561T and C422F polymorphisms of GHR gene were screened by PCR-RFLP method followed by Sanger sequencing of randomly selected samples to validate the genotyping results. Chi square was used to compare distribution of polymorphism in MP and control groups (p<0.05). Results: Heterozygous P561T mutation was found in 10.77% and 8.33% of MP and control groups, respectively (p=0.644) while none of the subjects had the C422F mutation. Sanger sequencing confirmed the genotyping results from the PCR-RFLP method. P561T polymorphism was significantly associated with ramus and lower facial height in MP patients and with ramus height in orthognathic patients (p<0.05). Conclusion: The results indicate that the P561T polymorphism of the GHR gene is associated with the vertical dimension of the mandible in an Iranian population.