title: Association of Arg72Pro of P53 polymorphism with colorectal cancer susceptibility risk in Malaysian population.
abstract: BACKGROUND
  Colorectal cancer (CRC) results from the interaction between environmental exposures and genetic predisposition factors.
  
  
  OBJECTIVE
  A case control study was designed and to investigate the genotype frequencies of P53Arg72Pro polymorphism in Malaysian CRC patients and healthy controls and to determine the associated risk of this polymorphism with CRC predisposition.
  
  
  METHODS
  In this case-control study, peripheral blood samples of 202 sporadic CRC patients and 201 normal controls were collected, DNA extracted and genotyped using the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) technique.
  
  
  RESULTS
  Genotype analysis showed the frequency of homozygous variant (Pro/Pro) genotype (21%) to be significantly higher in cases compared to controls (13%), (p=0.013). On examining the association between variant genotypes and CRC risk, the Pro/Pro homozygous variant genotype showed significantly higher risk association with CRC susceptibility (OR: 2.047, CI: 1.063-4.044, p=0.033). When stratified according to age, we observed that, individuals aged above 50 years and carriers of pro/pro genotype had significantly higher risk with OR: 3.642, CI: 1.166-11.378, p=0.026.
  
  
  CONCLUSIONS
  Our results suggest that the codon 72 SNP which results in amino acid substitution of Arginine to Proline in cell cycle regulatory gene P53, is associated with sporadic CRC risk and carriers of Pro/Pro genotype and more than 50 years old may have high susceptibility.
authors.affiliation: Human Genome Centre, Universiti Sains Malaysia, Health Campus, Kubang Kerian, Malaysia.
authors.forename: Abdul Aziz Ahmad
authors.initials: AA
authors.lastname: Aizat
authors.forename: Siti Nurfatimah Mohd
authors.initials: SN
authors.lastname: Shahpudin
authors.forename: Mohd Aminudin
authors.initials: MA
authors.lastname: Mustapha
authors.forename: Zaidi
authors.initials: Z
authors.lastname: Zakaria
authors.forename: Ahmad Shanwani Mohd
authors.initials: AS
authors.lastname: Sidek
authors.forename: Muhammad Radzi
authors.initials: MR
authors.lastname: Abu Hassan
authors.forename: Ravindran
authors.initials: R
authors.lastname: Ankathil
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008296:Malaysia; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D016159:Tumor Suppressor Protein p53 / Q000737:chemistry / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53