Polymorphisms associated with oral clefts as potential markers for oral pre and malignant disorders

• Published in: Oral diseases Vol. 30; no. 5; pp. 2985 - 2990
• Main Authors: Silva, Adriana Mendonça, Freitas, Valéria Souza, Vieira, Alexandre Rezende
• Format: Journal Article
• Language: English
• Published: Denmark Wiley Subscription Services, Inc 01.07.2024
• Subjects: Adult; Aged; Axin Protein - genetics; Case-Control Studies; Cleft Lip - genetics; cleft lip and palate; Cleft Palate - genetics; Deoxyribonucleic acid; DNA; Erythroplasia - genetics; Female; Genetic testing; Genomic analysis; Genotyping; Glycogen Synthase Kinase 3 - genetics; Glycogen Synthase Kinase 3 beta - genetics; Humans; Leukokeratosis; Leukoplakia, Oral - genetics; Lichen planus; Lichen Planus, Oral - genetics; Male; Middle Aged; Mouth Neoplasms - genetics; Oral cancer; Oral carcinoma; Oral diseases; Oral squamous cell carcinoma; Polymorphism, Single Nucleotide; potentially malignant disorders of the mucosa; Precancerous Conditions - genetics; Risk Factors; Single-nucleotide polymorphism; Squamous cell carcinoma; Wnt protein; Wnt Signaling Pathway - genetics; cleft lip and palate; potentially malignant disorders of the mucosa; oral cancer
• ISSN: 1354-523X; 1601-0825; 1601-0825
• DOI: 10.1111/odi.14779

Objective To investigate whether genes in the Wnt pathway, which have been previously associated with both oral clefts and oral squamous cell carcinoma, are also associated with oral potentially malignant disorders (leukoplakia, erythroplakia and lichen planus). Materials and Methods Case–control study: Dataset consisted of clinical information linked to DNA samples from affected subjects diagnosed with oral potential malignant disorders and oral cancer and their matched controls. Individual samples, clinical history, and potential risk factors were obtained through the Dental Registry and DNA Repository project of the School of Dental Medicine, University of Pittsburgh. The rs1533767 (WNT11), rs9879992 (GSK3B), and rs3923087 (AXIN2) were tested. After genomic DNA had been extracted, genotyping was performed blindly to clinical diagnosis status. Representation of genotypes and alleles in affected subjects in comparison to the unaffected individuals was determined using PLINK. Additional analysis was performed to investigate associations between environmental (socioeconomic/lifestyle) risk factors and the oral pathologies studied using STATA. Results Two of the SNPs tested (rs9879992 in GSK3B and rs3923087 in AXIN2) were statistically, significantly associated with the pathologies studied (p = 0.039 and 0.038, respectively). Conclusion Single‐nucleotide polymorphisms in genes in the Wnt pathway were associated with oral potentially malignant disorders.