Abstract

Many studies suggest that genetics plays an important role in mandibular retrusion. In this study, we hypothesized that single nucleotide polymorphisms (SNPs) of ADAMTS9 gene is associated with mandibular retrusion in a Han Chinese population. Saliva samples from 60 patients undergoing orthodontic for correction of malocclusion were collected. 130 SNPs genotyping of ADAMTS9 was used to asses the association of polymorphisms with the mandibular retrusion. The general linear model using age,gender and ANB as covariates weighed the relationship between SNP and mandibular retrusion. Additionally we leveraged the generalized multifactor dimensionality reduction (GMDR) method to investigate SNP-SNP interactions. The significance level was set at P<0.05 in this study. The general linear model results showed that four SNPs (rs1014640,rs7648540,rs75839462 and rs4605539) in the ADAMTS9 gene may be related to the occurrence of mandibular retrusion,even after Bonferroni correction. In addition, we further found that the interaction between the ADAMTS9 rs75839462 and ADAMTS9 rs80118777 promoted the occurrence of mandibular retrusion. Our finding suggest that the ADAMTS9 gene may cause mandibular retrsusion independently and through SNP-SNP interactions.

Highlights

  • Many studies suggest that genetics plays an important role in mandibular retrusion

  • The general linear model using age,gender and ANB as covariates weighed the relationship between single nucleotide polymorphisms (SNPs) and mandibular retrusion

  • The general linear model results showed that four SNPs in the ADAMTS9 gene may be related to the occurrence of mandibular retrusion,even after Bonferroni correction

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Summary

Introduction

Many studies suggest that genetics plays an important role in mandibular retrusion. Mandibular retrusion is one of the common facial developmental deformities, which affects the facial beauty and causes obstructive sleep apnea in severe case[1 − 3].There is growing evidence that genetics play an important role in mandibular retraction. Dohmoto found two significant Quantitative trait locus (QTL) within the regions 13 cM and 16 cM in chromosome 11 may be responsible for mandibular length. It indicated that some major genes are responsible for mandibular length[9]. Some studies have suggested that ADAMTS9 may play an important role in bone growth,the deletion of ADAMTS9 would hinders growth and development 13−14. No one has studied the relationship between ADAMTS9 and mandible development

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