@article{Tajbakhsh_Farjami_Darroudi_Ayati_Vakili_Asghari_Alimardani_Abedini_Kushyar_Pasdar_2019, title={Association of rs4784227-CASC16 (LOC643714 locus) and rs4782447-ACSF3 polymorphisms and their association with breast cancer risk among Iranian population}, volume={18}, url={https://www.excli.de/index.php/excli/article/view/921}, DOI={10.17179/excli2019-1374}, abstractNote={<p>TOX3 and FOXA1 proteins are believed to be involved in the susceptibility of breast cancer. <em>rs4784227-CASC16</em> and<em> rs4782447-ACSF3</em>, as single nucleotide polymorphisms (SNPs), located at the <em>16q</em> may affect the FOXA1 DNA binding sequence change and therefore may enhance the FOXA1-binding affinity to the promoter of <em>TOX3</em> 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 <em>rs4784227-CASC16</em> and <em>rs4782447-ACSF3</em> 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 <em>rs4784227-CASC16</em> 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-<em><sub>value</sub></em>=0.025). In this respect, although we did not observe a statistically significant association between <em>rs4782447-ACSF3</em> with breast cancer susceptibility, the combination of the effects of <em>rs4784227-CASC16</em> and <em>rs4782447-ACSF3</em> 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 <em>TOX3</em> and thus change in <em>TOX3</em> expression, which can eventually affect the risk of breast cancer.</p>}, journal={EXCLI Journal}, author={Tajbakhsh, Amir and Farjami, Zahra and Darroudi, Sousan and Ayati, Seyed Hasan and Vakili, Fatemeh and Asghari, Mahla and Alimardani, Maliheh and Abedini, Soheila and Kushyar, Mohammad Mahdi and Pasdar, Alireza}, year={2019}, month={Jun.}, pages={429–438} }