旨在研究先前与口腔裂隙和口腔鳞状细胞癌相关的 Wnt 通路中的基因是否也与口腔潜在恶性疾病（白斑、红斑和扁平苔藓）相关。病例对照研究：数据集包括临床与被诊断患有口腔潜在恶性疾病和口腔癌的受影响受试者及其匹配对照的 DNA 样本相关的信息。个体样本、临床病史和潜在风险因素通过匹兹堡大学牙科医学院的牙科登记和 DNA 存储库项目获得。测试了 rs1533767 (WNT11)、rs9879992 (GSK3B) 和 rs3923087 (AXIN2)。提取基因组 DNA 后，对临床诊断状态进行盲目基因分型。使用 PLINK 确定受影响受试者与未受影响个体相比的基因型和等位基因的代表性。进行了额外的分析，以调查环境（社会经济/生活方式）风险因素与使用 STATA 研究的口腔病理学之间的关联。测试的两个 SNP（GSK3B 中的 rs9879992 和 AXIN2 中的 rs3923087）在统计上与所研究的病理学显着相关（p =分别为 0.039 和 0.038）。Wnt 通路中基因的单核苷酸多态性与口腔潜在恶性疾病相关。© 2023 Wiley periodicals LLC。

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).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.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).Single-nucleotide polymorphisms in genes in the Wnt pathway were associated with oral potentially malignant disorders.© 2023 Wiley Periodicals LLC.