title: Condylar geometry variation is associated with ENPP1 variant in a population of patients with dento-facial deformities.
abstract: OBJECTIVE
  Bone remodeling is essential in maintaining bone health. Considering that ENPP1 contributes to bone geometry and bone mineralization, the aim of our study was to analyze the association between single-nucleotide polymorphisms (SNPs) of ENPP1 and condylar remodeling.
  
  
  METHODS
  A total of 156 patients undergoing orthodontic and maxillofacial surgery treatment for correction of malocclusion were included in this prospective study. Saliva samples from all subjects were used for DNA extraction and genotyping. Four ENPP1 SNPs were selected and tested to determine whether specific allelic variants are correlated with condylar remodeling. The criteria of condylar remodeling chosen were the ratio between each side of condylar height or surface differences on a dental panoramic of each patient. A diagnostic threshold was set at 15% difference between both sides.
  
  
  RESULTS
  The ENPP1 SNP rs9373000 showed a statistically significant association with condylar height ratio >15% (p = 0.012). The GG genotype was found to be a protective factor against condylar height decrease (p = 0.003).
  
  
  CONCLUSIONS
  This study identifies the genetic variant rs9373000 as a potentially causal variant for mandibular condyle geometry variation for patients presenting with dento-facial deformities.
authors.affiliation: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, F-59000 Lille, France. Electronic address: constant.marion@hotmail.fr.
authors.forename: Marion
authors.initials: M
authors.lastname: Constant
authors.affiliation: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, F-59000 Lille, France. Electronic address: romain.nicot@gmail.com.
authors.forename: Romain
authors.initials: R
authors.lastname: Nicot
authors.affiliation: Department of Oral Biology, University of Pittsburgh School of Dental Medicine, 3501 Terrace St, Pittsburgh PA 15261, USA. Electronic address: alexandre_vieira@pitt.edu.
authors.forename: Alexandre R
authors.initials: AR
authors.lastname: Vieira
authors.affiliation: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, INSERM U 1008, Controlled Drug Delivery Systems and Biomaterials, F-59000 Lille, France. Electronic address: gwenael.raoul@gmail.com.
authors.forename: Gwenael
authors.initials: G
authors.lastname: Raoul
authors.affiliation: Kornberg School of Dentistry, Temple University, USA. Electronic address: jjs6@temple.edu.
authors.forename: James J
authors.initials: JJ
authors.lastname: Sciote
authors.affiliation: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, INSERM U 1008, Controlled Drug Delivery Systems and Biomaterials, F-59000 Lille, France. Electronic address: ferri.joel@gmail.com.
authors.forename: Joel
authors.initials: J
authors.lastname: Ferri
mesh_terms: D000328:Adult; D000483:Alleles; D063405:Anatomic Variation; D016723:Bone Remodeling / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D008335:Mandibular Condyle / Q000033:anatomy & histology*; D019767:Maxillofacial Abnormalities / Q000235:genetics*; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011446:Prospective Studies; D011755:Pyrophosphatases / Q000235:genetics*
chemical_list: D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
keywords: Ectonucleotide pyrophosphatase phosphodiesterase 1; Malocclusion; Mandibular condyle; Temporomandibular joint