title: TP53 codon 72 Arg/Arg polymorphism is associated with a higher risk for inflammatory bowel disease development.
abstract: OBJECTIVE
  To investigate the association between tumor protein 53 (TP53) codon 72 polymorphisms and the risk for inflammatory bowel disease (IBD) development.
  
  
  METHODS
  Numerous genetic and epigenetic drivers have been identified for IBD including the TP53 gene. Pathogenic mutations in TP53 gene have only been reported in 50% of colorectal cancer (CRC) patients. A single nucleotide polymorphism (SNP) in the TP53 gene resulting in the presence of either arginine (Arg) or proline (Pro) or both at codon 72 was shown to alter TP53 tumor-suppressor properties. This SNP has been investigated as a risk factor for numerous cancers, including CRC. In this study we analyzed TP53 codon 72 polymorphism distribution in 461 IBD, 181 primary sclerosing cholangitis patients and 62 healthy controls. Genotyping of TP53 was performed by sequencing and restriction fragment length polymorphism analysis of genomic DNA extracted from peripheral blood.
  
  
  RESULTS
  The most frequent TP53 genotype in IBD patients was Arg/Arg occurring in 54%-64% of cases (and in only 32% of controls). Arg/Pro was the most prevalent genotype in controls (53%) and less common in patients (31%-40%). Pro/Pro frequency was not significantly different between controls and IBD patients.
  
  
  CONCLUSIONS
  The data suggests that the TP53 codon 72 Arg/Arg genotype is associated with increased risk for IBD development.
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Natalia
authors.initials: N
authors.lastname: Volodko
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Salla
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Bertus
authors.initials: B
authors.lastname: Eksteen
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Richard N
authors.initials: RN
authors.lastname: Fedorak
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Hien Q
authors.initials: HQ
authors.lastname: Huynh
authors.affiliation: Natalia Volodko, Hien Q Huynh, Shairaz Baksh, Department of Pediatrics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB T6G 2E1, Canada.
authors.forename: Shairaz
authors.initials: S
authors.lastname: Baksh
mesh_terms: D016022:Case-Control Studies; D003062:Codon; D003093:Colitis, Ulcerative / Q000175:diagnosis / Q000235:genetics*; D003424:Crohn Disease / Q000175:diagnosis / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018570:Risk Assessment; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D003062:Codon; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: 72 codon single nucleotide polymorphism; Colorectal cancer; Inflammatory bowel disease; Tumor protein 53; rs1042522