Association of MSX1 gene polymorphisms and maxillary lateral incisor agenesis in Non-syndromic cleft lip and/or palate individuals

Abstract

Background: To investigate the association between MSX1 gene polymorphisms and maxillary lateral incisor agenesis with and without Non Syndromic Cleft lip and palate (NSCL/P) in a South Indian population. Methods: The study sample was divided into four groups: Group I: Twenty five Cleft lip and palate (NSCL/P) subjects with unilateral/bilateral congenitally missing maxillary lateral incisors, without agenesis of any other permanent teeth, Group II: Twenty five individuals with NSCL/P and a full complement of teeth, Group III: Twenty five non-cleft individuals with unilateral/bilateral congenitally missing maxillary lateral incisors and Control group: Twenty five healthy individuals with normal teeth development and without orofacial defects. MSX1 gene polymorphisms rs12532, rs1042484 and rs11726039 were genotyped by Sanger sequencing method with pre designed primer using ABI 3730 DNA sequencer. Associations were tested using Pearson Chi-square analysis. Results: The three SNPs, rs12532, rs1042484 and rs11726039 of MSX1 gene exhibited polymorphism. rs12532 was associated with reduced risk of maxillary lateral incisor agenesis in NSCL/P subjects. rs1042484 had significant association with the NSCL/P without maxillary lateral incisor agenesis (full complement of teeth) subjects. rs11726039 showed significant association with NSCL/P with or without maxillary lateral incisor agenesis. Conclusion: The present study on a South Indian population revealed a significant association between the MSX1 gene polymorphisms and tooth agenesis in NSCL/P subjects. Keywords: MSX1, non syndromic cleft lip and palate, lateral incisor agenesis.