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Analysis of genetic polymorphisms in AXIN2 in patients with non-syndromic cleft lip with or without cleft palate and tooth agenesis

Grant number: 23/02825-9
Support Opportunities:Scholarships in Brazil - Scientific Initiation
Effective date (Start): May 01, 2023
Effective date (End): December 31, 2024
Field of knowledge:Health Sciences - Dentistry - Oral and Maxillofacial Surgery
Principal Investigator:Ricardo Della Coletta
Grantee:Sara Garcia Azevedo
Host Institution: Faculdade de Odontologia de Piracicaba (FOP). Universidade Estadual de Campinas (UNICAMP). Piracicaba , SP, Brazil


The patients affected by non-syndromic cleft lip with or without cleft palate (NSCL±P)have a higher incidence of tooth agenesis, which increases the aesthetic and functional complications, requiring more complex rehabilitation plans. Evidence suggests a connectionbetween tooth agenesis and NSCL±P due to shared genes and signaling pathways related to tooth and lip/palate development. One of these genes is AXIN2, which encodes a negative regulator of the Wnt signaling pathway. This study aims to determine the association of common genetic variants in AXIN2 with the risk of occurrence of NSCL±P and tooth agenesis in the same patient. The study will explore 6 single nucleotide polymorphisms in 300 samples, including 100 samples from patients with NSCL±P and tooth agenesis outside cleft area, 100 samples from patients with NSCL±P without tooth agenesis, and 100 samples from healthy patients without orofacial cleft and tooth agenesis (control group). Genotyping will be performed using the allelic discrimination system with fluorescent probes (TaqMan® system from Applied Biosystems, USA), and the results will be subjected to different association tests, considering the differences in genomic ancestry of each individual. This study will contribute to a better understanding of the participation of AXIN2 in the pathogenesis of NSCL±P and tooth agenesis.

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