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Objectives: To evaluate the association of SYN2, PPARG, RAF1, TIMP4, and IQSEC1 polymorphisms in 3p25 with oral squamous cell carcinoma (OSCC) in the Chinese Han population. Subjects and Methods: Genomic DNA was extracted from 494 subjects with or without OSCC. Basic information on the subjects, clinical data, and prognoses were collected. Fifteen candidate single nucleotide polymorphisms (SNPs) were selected and genotyped. The statistical analyses included descriptive statistics, logistic regression, survival, and functional annotation was performed. Results: IQSEC1‐rs2686742 correlated with OSCC occurrence. In addition, RAF1‐rs1051208, PPARG‐rs10865710, PPARG‐rs3856806, IQSEC1‐rs2686742, PPARG‐rs1175544, IQSEC1‐rs9211, and IQSEC1‐rs2600322 were significantly associated with the clinical characteristics of patients with OSCC. The log‐rank test showed that IQSEC1‐rs2600322 may play an important role in the survival of patients with OSCC. The Cox regression analysis suggested that PPARG‐rs10865710, PPARG‐rs7649970, IQSEC1‐rs9211, IQSEC1‐rs2600322, and IQSEC1‐rs12487715 influenced survival outcomes. The functional annotation indicated that the transcript levels of IQSEC1 were upregulated in head and neck squamous cell carcinoma tissues, whereas PPARG gene transcription was downregulated. Conclusions: IQSEC1‐rs2686742 may be closely associated with OSCC onset. Multiple SNPs in IQSEC1 and PPARG genes correlated with the clinical characteristics of OSCC, among which PPARG‐rs10865710, IQSEC1‐rs9211, and IQSEC1‐rs2600322 were associated with cancer prognosis. [ABSTRACT FROM AUTHOR]

The present study aims to investigate the mutation in a Chinese family with dentin dysplasia type II (DD‐II) and to summarize mutation hotspots, clinical manifestations, and disease management strategies. Phenotype analysis, clinical intervention, mutation screening, and cosegregation analysis within the enrolled family were performed. A summary of the reported mutations in the dentin phosphoprotein (DPP) region of dentin sialophosphoprotein (DSPP) was analyzed. Pathogenicity prediction analysis of the physical properties and function of DSPP variants was performed by bioinformatic processing. Clinical management strategies are discussed. A novel pathogenic mutation (c.2035delA) in the DPP region of DSPP was identified, which was cosegregated in the family. The immature permanent teeth of patients with DD‐II presented with X‐shaped root canal phenotypes. Most of the identified mutations for DD‐II were clustered in the DPP region between nucleotides 1686–2134. Points of differential diagnosis, clinical interventions, and management strategies are proposed. This study revealed a novel DSPP frameshift mutation and presented new clinical features of DD‐II. The locus involving nucleotides 1686–2134 of DSPP may represent a mutational hotspot for the disease. Appropriate management of DD‐II at different stages is important to avoid the development of secondary dental lesions. [ABSTRACT FROM AUTHOR]