Association of rs4784227-CASC16 (LOC643714 locus) and rs4782447-ACSF3 polymorphisms and their association with breast cancer risk among Iranian population

• Published in: EXCLI journal Vol. 18; pp. 429 - 438
• Main Authors: Tajbakhsh, Amir, Farjami, Zahra, Darroudi, Susan, Ayati, Seyed Hasan, Vakili, Fatemeh, Asghari, Mahla, Alimardani, Maliheh, Abedini, Soheila, Kushyar, Mohammad Mahdi, Pasdar, Alireza
• Format: Journal Article
• Language: English
• Published: Germany Leibniz Research Centre for Working Environment and Human Factors 01.01.2019
• Subjects: Original; epidemiology; genetic variation; carcinoma; enhancer element; chromatin remodelling
• ISSN: 1611-2156; 1611-2156
• DOI: 10.17179/excli2019-1374

TOX3 and FOXA1 proteins are believed to be involved in the susceptibility of breast cancer. and , as single nucleotide polymorphisms (SNPs), located at the may affect the FOXA1 DNA binding sequence change and therefore may enhance the FOXA1-binding affinity to the promoter of gene. This study aimed to investigate the association of these SNPs/haplotypes with breast cancer susceptibility in an Iranian population. We conducted a case-control study of 1072 blood samples (505 breast cancer patients and 567 controls). Genotyping of and SNPs was carried out by ARMS-PCR. Moreover, statistical analysis was done using SPSS version 20.0 (IBM Inc., Chicago, IL, USA), PHASE v 2.1 and SNP analyser 2.0. There was a strongly significant statistical association between alleles and genotypes of with breast cancer risk in our study population (p<0.05). Moreover, a significant association was demonstrated between TA haplotype and breast cancer risk (OR=0.78; 95% CI (0.62-0.96); P- =0.025). In this respect, although we did not observe a statistically significant association between with breast cancer susceptibility, the combination of the effects of and SNPs may also affect the risk. This is in line with other studies suggesting these SNPs as risk-associated polymorphisms which may lead to a change in the affinity of FOXA1, as a distal enhancer, to and thus change in expression, which can eventually affect the risk of breast cancer.