title: Genetic association between PIK3CA gene and oral squamous cell carcinoma: a case control study conducted in Chongqing, China.
abstract: PIK3CA has been shown to be involved in many malignant tumors. This study was designed to determine the expression level of PIK3CA in oral squamous cell carcinoma (OSCC) and the association of gene polymorphisms of PIK3CA with OSCC in Chinese population. The expression of PIK3CA was detected by real-time PCR in tumor and pericarcinomatous tissues of 10 OSCC patients. Nine single-nucleotide polymorphisms (SNPs) of PIK3CA (rs1607237, rs17849079, rs2677764, rs2699887, rs4855094, rs4975596, rs6443624, rs7651265 and rs7736074) in blood of 113 OSCC patients and 184 normal controls were genotyped using matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) assay. The gene expression of PIK3CA was significantly higher in tumor tissues of OSCC patients than that in pericarcinomatous tissues (P = 0.012). An increased frequency of the C allele of PIK3CA rs1607237 was observed in OSCC patients as compared with controls; However, the significance was lost after Bonferroni correction (P = 0.048, pc = 0.576). In further stratification analysis, although the frequencies of PIK3CA rs4975596 A allele in male patients and rs1607237 C allele in female patients were increased (P = 0.032, P = 0.020, respectively), the significance was also missing when Bonferroni correction was performed (P c = 0.384, (P c = 0.24, respectively). The prevalence of other SNPs of PIK3CA did not differ between OSCC patients and controls. The expression of PIK3CA was increased in OSCC tumors; however, none of the nine tested SNPs of PIK3CA was associated with susceptibility to OSCC in the studied population.
authors.affiliation: Departments of Oral and Maxillofacial Surgery, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Wan
authors.affiliation: Departments of Oral and Maxillofacial Surgery, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Xian
authors.initials: X
authors.lastname: Li
authors.affiliation: Departments of Laboratory Medicine, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Junyan
authors.initials: J
authors.lastname: Yang
authors.affiliation: Departments of Laboratory Medicine, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Lv
authors.affiliation: Departments of Laboratory Medicine, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Qiming
authors.initials: Q
authors.lastname: Wang
authors.affiliation: Departments of Laboratory Medicine, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Chen
authors.affiliation: Departments of Oral and Maxillofacial Surgery, Chongqing Key Laboratory of Oral Diseases and Biomedical Sciences, Stomatological Hospital of Chongqing Medical University Chongqing 401147, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Li
mesh_terms: D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D002681:China; D058534:Class I Phosphatidylinositol 3-Kinases; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009062:Mouth Neoplasms / Q000235:genetics*; D019869:Phosphatidylinositol 3-Kinases / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D060888:Real-Time Polymerase Chain Reaction; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization; D000077195:Squamous Cell Carcinoma of Head and Neck
chemical_list: D058534:Class I Phosphatidylinositol 3-Kinases; D019869:Phosphatidylinositol 3-Kinases; C484760:PIK3CA protein, human
keywords: MALDI-TOF MS; Oral squamous cell carcinoma; PIK3CA; RT-PCR; gene expression; single nucleotide polymorphisms