title: Potential impact of (rs 4645878) BAX promoter -248G>A and (rs 1042522) TP53 72Arg>pro polymorphisms on epithelial ovarian cancer patients.
abstract: BACKGROUND
  In India, Epithelial ovarian cancer has emerged as one of the most common malignancies affecting women. Tumor protein 53 (TP53) induces expression of the B cell lymphoma 2-associated X protein (BAX) gene by directly binding to the TP53-binding element in the BAX promoter. Therefore, we hypothesized that single-nucleotide polymorphism of BAX promoter -248G>A and TP53 72Arg>Pro gene may jointly contribute to ovarian cancer risk.
  
  
  OBJECTIVE
  This study aimed at exploring the association of BAX promoter -248G>A and TP53 72Arg>Pro gene polymorphism with risk of developing EOC and its clinicopathological features and to evaluate gene-gene interaction of these two polymorphisms with risk of developing EOC.
  
  
  METHODS
  The study was conducted on 70 Epithelial ovarian cancer patients and 70 healthy controls. Genotyping of p53 codon 72 and BAX promoter gene was examined by ASO-PCR and PICA-PCR, respectively. Odds ratios and 95 % confidence intervals were calculated.
  
  
  RESULTS
  We found an increased cancer risk associated with the BAX AA (ORs = 4.1, 95 %, CI = 1.23-13.97) genotype. An increased risk was also associated with the TP53 Pro/Pro (OR = 4.4, 95 % CI = 1.40-13.99) and Arg/Pro genotype (OR = 2.3, 95 % CI = 1.13-4.86). The gene-gene interaction of these polymorphisms increased EOC risk in a more than additive manner (ORs for the presence of both BAX AA and TP53 Arg/Pro genotypes = 8.7, 95 % CI = 1.66-45.48). BAX GG genotype was associated with adverse staging of cancer (P = 0.01).
  
  
  CONCLUSIONS
  The findings suggest that polymorphism of BAX and TP53 genes may be potential genetic modifiers for developing ovarian cancer.
authors.affiliation: Department of Biochemistry, R.D. Gardi Medical College, Ujjain, 456006, MP, India. drsagar.dholariya@gmail.com.
authors.forename: S
authors.initials: S
authors.lastname: Dholariya
authors.affiliation: Cancer Molecualr Genetics, Faculty of Applied Medical Sciences, Prince Fahd Bin Sultan Research Chair, University of Tabuk, Tabuk, Saudi Arabia, 71491, Saudi Arabia. rashidaiims@gmail.com.
authors.forename: R
authors.initials: R
authors.lastname: Mir
authors.affiliation: Molecular Oncology Lab, Department of Biochemistry, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. mariyam13mamc@gmail.com.
authors.forename: M
authors.initials: M
authors.lastname: Zuberi
authors.affiliation: Molecular Oncology Lab, Department of Biochemistry, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. prashantbiochemist007@gmail.com.
authors.forename: P
authors.initials: P
authors.lastname: Yadav
authors.affiliation: Department of Obstetrics and Gynecology, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. ggandhi2004@yahoo.co.in.
authors.forename: G
authors.initials: G
authors.lastname: Gandhi
authors.affiliation: Department of Pathology, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. nitakhurana@rediffmail.com.
authors.forename: N
authors.initials: N
authors.lastname: Khurana
authors.affiliation: Department of Biochemistry, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. alpanasaxena@hotmail.com.
authors.forename: A
authors.initials: A
authors.lastname: Saxena
authors.affiliation: Department of Biochemistry, Maulana Azad Medical College and Associated Hospitals, New Delhi, 110002, India. drpcraymamc@gmail.com.
authors.forename: P C
authors.initials: PC
authors.lastname: Ray
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D000077216:Carcinoma, Ovarian Epithelial; D016022:Case-Control Studies; D004843:Epistasis, Genetic; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007194:India / Q000453:epidemiology; D008875:Middle Aged; D009375:Neoplasms, Glandular and Epithelial / Q000453:epidemiology / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*; D051028:bcl-2-Associated X Protein / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53; D051028:bcl-2-Associated X Protein
keywords: B-cell lymphoma 2-associated X protein; Epithelial ovarian cancer; Single-nucleotide polymorphism; Tumor protein 53