101. Mutations in the osteoprotegerin-encoding gene are associated with temporomandibular joint ankylosis
- Author
-
Jennifer Tsi Gerber, Leandro Eduardo Klüppel, João Armando Brancher, Ricardo D. Coletta, Renato Assis Machado, Paola Fernanda Cotait de Lucas Corso, Erika Calvano Küchler, Rafaela Scariot, Davani Latarullo Costa, Tatiana Miranda Deliberador, and Nelson Luis Barbosa Rebellato
- Subjects
Adult ,Male ,Adolescent ,Ankylosis ,medicine.disease_cause ,Pathology and Forensic Medicine ,Young Adult ,symbols.namesake ,chemistry.chemical_compound ,Osteoprotegerin ,Genetic variation ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,Dentistry (miscellaneous) ,Child ,Gene ,Genetics ,Sanger sequencing ,Mutation ,Temporomandibular Joint ,business.industry ,TRANSTORNOS DA ARTICULAÇÃO TEMPOROMANDIBULAR ,Middle Aged ,Temporomandibular Joint Disorders ,Mutational analysis ,chemistry ,Temporomandibular joint ankylosis ,symbols ,Female ,Surgery ,Oral Surgery ,business ,DNA - Abstract
Objective This study aimed to investigate genetic variations in the osteoprotegerin-encoding gene (TNFRSF11B) in patients with temporomandibular joint ankylosis (TMJA). Study design The sample was comprised of 17 patients diagnosed with TMJA, of both sexes with age ranging from 6 to 57 years old. TNFRSF11B mutational analysis was performed by the Sanger sequencing method using DNA extracted from oral cells and the functional impact prediction of the variants was assessed by bioinformatic analysis. Results Sequencing analysis identified 15 (88.23%) patients that presented at least one genetic variant in TNFRSF11B. The mutation rs202090603 (p.E33K) was found in 6 individuals, and rs140782326 (p.V281M), rs11573942 (p.L295) and rs1375250340 (p.I389T) were identified in 1 subject each. According to the pathogenicity potential of mutations, 3 variants were considered of low impact (rs2073618, rs202090603 and rs2228568) and 3 as disease-causing (rs140782326, rs11573942 and rs1375250340). The variant rs202090603 (p.E33K) was found in the first cysteine domain with differences in the loop positions of p.E33K mutated the 3D structure of osteoprotegerin. Conclusion Two polymorphisms (rs2073618 and rs2228568) and the mutations rs202090603 (p.E33K), rs140782326 (p.V281M), rs11573942 (p.L295) and rs1375250340 (p.I389T) in TNFRSF11B gene may be associated with TMJA.
- Published
- 2022