title: ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.
abstract: Dentofacial deformities are dys-morpho-functional disorders involving the temporomandibular joints (TMJ). Many authors have reported a TMJ improvement in dysfunctional subjects with malocclusion after orthodontic or combined orthodontic and surgical treatment particularly for the relief of pain. In particular, few studies have highlighted the demographic and clinical predictors of response to surgical treatment. To date, no genetic factor has yet been identified as a predictor of response to surgical treatment. The aim of this cohort study is therefore to identify single-nucleotide polymorphisms associated with postoperative temporomandibular disorders (TMD) or with TMJ symptoms after orthognathic surgery. Here, we found the AA genotype of SNP rs1643821 (ESR1 gene) as a risk factor for dysfunctional worsening after orthognathic surgery. In addition, we have identified TT genotype of SNP rs858339 (ENPP1 gene) as a protective factor against TMD in a population of patients with dentofacial deformities. Conversely, the heterozygous genotype AT was identified as a risk factor of TMD with respect to the rest of our population. All these elements are particularly important to bring new screening strategies and tailor future treatment.
  
  
  CONCLUSIONS
  This study allows us to identify sub-populations at high risk of developing postoperative temporomandibular disorders after orthognathic surgery procedures. Many other genes of interest could be potential factors influencing the dysfunctional response to orthognathic surgery, particularly genes of the Opera cohort.
authors: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, F-59000, Lille, France. Electronic address: romain.nicot@gmail.com.
authors: Romain
authors: R
authors: Nicot
authors: 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: Alexandre R
authors: AR
authors: Vieira
authors: 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: Gwénaël
authors: G
authors: Raoul
authors: Univ. Lille, Oral and Maxillofacial Department, Roger Salengro Hospital, CHU Lille, F-59000, Lille, France. Electronic address: constancedelmotte@hotmail.com.
authors: Constance
authors: C
authors: Delmotte
authors: Univ. Lille, CHU Lille, EA 2694 - Santé publique: épidémiologie et qualité des soins, F-59000, Lille, France. Electronic address: alain.duhamel@univ-lille2.fr.
authors: Alain
authors: A
authors: Duhamel
authors: 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: Joël
authors: J
authors: Ferri
authors: Department of Orthodontics, Kornberg School of Dentistry, Temple University, Philadelphia, PA 19140, USA. Electronic address: jjs6@temple.edu.
authors: James J
authors: JJ
authors: Sciote
mesh_terms: D000328:Adult; D063169:Dentofacial Deformities / Q000000981:diagnostic imaging / Q000235:genetics* / Q000601:surgery*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D056948:Orthognathic Surgical Procedures; D010727:Phosphoric Diester Hydrolases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011755:Pyrophosphatases / Q000235:genetics*; D011862:Radiography, Panoramic; D012307:Risk Factors; D013705:Temporomandibular Joint Disorders / Q000000981:diagnostic imaging / Q000235:genetics*
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D010727:Phosphoric Diester Hydrolases; C065962:ectonucleotide pyrophosphatase phosphodiesterase 1; D011755:Pyrophosphatases
keywords: Chronic pain; Ectonucleotide pyrophosphatase phosphodiesterase 1; Estrogen receptor alpha; Orthognathic surgery; Temporomandibular joint disorders