OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: Our finding suggest that the ADAMTS9 gene may cause mandibular retrsusion independently and through SNP-SNP interactions.
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