Association Of FASL INV2nt -124 A/G (Rs5030772) Polymorphism With Breast Cancer Risk In Northwest Of Iran

FAS ligand (FASL) is one of the crucial ligands in programmed cell death. It acts in association withFAS receptor to trigger extrinsic apoptotic pathway. Inactivating of this pathway results inapoptosis failure and may cause tumor formation. Functional polymorphisms in FASL gene isassociated with breast cancer risk and Breast cancer is one of the major causes of cancer-relateddeath among women worldwide. The aim of this study was to investigate association of FASL INV2nt-124 A/G (rs5030772) polymorphism and breast cancer risk. A case-control study was done on 80breast cancer patients and 80 normal women from Iranian-Azeri population. Genomic DNA isolatedfrom blood of case and control individuals by salting out method. Genotyping was performed bytetra-AR/S PCR (amplification refractory mutation system polymerase chain reaction) method.The data were analyzed by Javastat Online Statistics Software, with a significance level of 0.05. Inpresent study, AA dominant genotype frequency was higher in case group than the control group(56.25 and 17.5 percent respectively) and statistical significant difference was observed (OR=6.061,95%CI=3.023-12.268, P=0.0001). AG genotype frequency in control and case groups was 81.25 and41.25 percent respectively, which was significant in control group (OR=0.162, 95%CI=0.081-0.322,P=0.0001). GG recessive genotype frequency in control and case groups was 1.25 and 2.5 percentrespectively, which significant difference in genotype distribution between two groups was notobserved (OR=2.026, 95%CI=0.189-34.282, P=0.574). G allele frequency in control and case group was41.875 and 23.125 percent respectively (OR=2.395, 95%CI=1.245-4.628, P=0.005). A allele frequencyin control and case subjects was 58.125 and 76.875 percent respectively (OR=0.418 95%CI=0.216-0.803). The FASL -124 (rs5030772) AA genotype and A allele seem to be associated with a goodprognosis in patients with breast cancer.