title: Associations between the risk of tooth agenesis and single-nucleotide polymorphisms of MSX1 and PAX9 genes in nonsyndromic cleft patients.
abstract: OBJECTIVE
  To investigate the association between the risk of tooth agenesis and single-nucleotide polymorphisms (SNPs) of MSX1 and PAX9 genes in nonsyndromic cleft patients.
  
  
  METHODS
  The subjects were 126 Korean nonsyndromic cleft patients. Tooth agenesis type (TAT) was classified as none (0); cleft area (1); cleft area + other area (2); and other area (3) based on agenesis of the maxillary lateral incisor (MXLI) and another tooth within or outside the cleft area. TAT was further grouped into two subcategories (0 and 1) and four subcategories (0, 1, 2, and 3). Three SNPs of MSX1 and 10 SNPs of PAX9 were investigated using Fisher's exact test and logistic regression analysis.
  
  
  RESULTS
  Although the association between genotype distribution of PAX9-rs7142363 and TAT was significant (P < .05 in four subcategories), genotypic odds ratios (GORs) of SNPs in each TAT were not meaningful. However, for MSX1-rs12532 and PAX9-rs2073247, associations between genotypic distribution and TAT were significant (P < .01 in four subcategories and P < .05 in two subcategories; P < .01 in two subcategories, respectively). In cleft area, GORs of MXLI agenesis in genotypes GA of MSX1-rs12532 and CT of PAX9-rs2073247 were increased by 3.14-fold and 4.15-fold compared with genotype GG of MSX1-rs12532 and CC of PAX9-rs2073247, respectively (P <. 01; P < .05). In cleft area + other area, the GOR of agenesis of MXLI and another tooth in genotype AA of MSX1-rs12532 was increased by fivefold compared with genotype GG (P < .05).
  
  
  CONCLUSIONS
  Genetic disturbances of MSX1 and PAX9 genes are associated with tooth agenesis within and outside the cleft area.
authors.affiliation: a  Graduate student (PhD), Department of Orthodontics, School of Dentistry, Seoul National University, Fellow Doctor, Department of Orthodontics, School of Dentistry, Kyung Hee University, Seoul, South Korea.
authors.forename: Yu-Jin
authors.initials: YJ
authors.lastname: Seo
authors.forename: Ji Wan
authors.initials: JW
authors.lastname: Park
authors.forename: Young Ho
authors.initials: YH
authors.lastname: Kim
authors.forename: Seung-Hak
authors.initials: SH
authors.lastname: Baek
mesh_terms: D000848:Anodontia / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D051957:MSX1 Transcription Factor / Q000235:genetics*; D008297:Male; D016017:Odds Ratio; D051764:PAX9 Transcription Factor / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012044:Regression Analysis; D012306:Risk
chemical_list: D051957:MSX1 Transcription Factor; D051764:PAX9 Transcription Factor