Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 −652 6N ins/del promoter polymorphism (rs3834129) in breast cancer

• Published in: Gene 2012-08, Vol.505 (1), p.176-179
• Main Authors: Hashemi, Mohammad, Eskandari-Nasab, Ebrahim, Fazaeli, Aliakbar, Rezaei, Hamzeh, Mashhadi, Mohammad Ali, Arbabi, Farshid, Taheri, Mohsen
• Format: Article
• Language: English
• Subjects: Adult; Alleles; apoptosis; Breast cancer; breast neoplasms; Breast Neoplasms - genetics; Case-Control Studies; Caspase 8 - genetics; Caspase-8; Genotype; Humans; INDEL Mutation; Middle Aged; patients; polymerase chain reaction; Polymerase Chain Reaction - methods; Polymorphism; Polymorphism, Genetic; risk
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/j.gene.2012.05.043

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. ► CASP8 −652 6N ins/del was evaluated in breast cancer patients. ► We designed a rapid and simple bi-PASA for detection of CASP8 6N deletion. ► Casp8 6N ins/del polymorphism was genotyped by bi-PASA method. ► Inverse association between CASP8 -6N del variant and breast cancer risk was found.