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

作者：Hashemi Mohammad^*; Eskandari Nasab Ebrahim; Fazaeli Aliakbar; Rezaei Hamzeh; Mashhadi Mohammad Ali; Arbabi Farshid; Taheri Mohsen

来源：Gene, 2012, 505(1): 176-179.

DOI：10.1016/j.gene.2012.05.043

• Caspase-8
• Breast cancer
• Polymorphism

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 GASPS -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.

• 出版日期2012-8-15