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Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer
Authors:Hashemi Mohammad  Eskandari-Nasab Ebrahim  Fazaeli Aliakbar  Rezaei Hamzeh  Mashhadi Mohammad Ali  Arbabi Farshid  Taheri Mohsen
Institution:Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran. mhd.hashemi@gmail.com
Abstract:Caspase-8 (CASP8) plays a critical role in regulating apoptosis, and its functional polymorphisms may modify cancer risk. We investigated the possible association between CASP8 -652 6N ins/del (rs3834129) and the risk of breast cancer in a sample of Iranian population. This case-control study was done on 236 breast cancer patients and 203 cancer free healthy female. We designed a rapid and simple bi-directional PCR allele-specific amplification (bi-PASA) for detection of CASP8 -652 6N ins/del polymorphism. The results showed that the CASP8 -652 6N del/dl genotype was inversely associated with breast cancer risk (OR=0.33, 95% CI=0.17-0.65, p=0.001). The frequencies of the del allele in cases and controls were 29.1% and 38.6%, respectively. An inverse association between CASP8 6N del variant and the risk of breast cancer (OR=0.66, 95% CI=0.66-0.87, p=0.002) was found. In conclusion, the result suggests that the CASP8 -652 6N del polymorphism plays a protective role in susceptibility to breast cancer in our population. Further studies in other populations with larger samples are needed to confirm these findings.
Keywords:AICD  activation-induced cell death  bi-PASA  bi-directional PCR allele-specific amplification  CASP8  caspase-8  DISC  death induced signaling complex  CI  confidence intervals  CRC  colorectal cancer  Del  deletion  EOC  epithelial ovarian cancer  ESCC  esophageal squamous cell carcinoma  GBC  gallbladder cancer  GC  gastric cancer  Ins  insertion  OR  odds ratio  PAGE  polyacrylamide gel electrophoresis  RCC  renal cell carcinoma  SNP  single nucleotide polymorphism  T-ARMS-PCR  Tetra-Primer Amplification Refractory Mutation System-Polymerase Chain Reaction
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