Tajbakhsh Amir, Farjami Zahra, Darroudi Susan, Ayati Seyed Hasan, Vakili Fatemeh, Asghari Mahla, Alimardani Maliheh, Abedini Soheila, Kushyar Mohammad Mahdi, Pasdar Alireza
Department of Modern Sciences & Technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Young Researchers and Elite Club, Yasooj Branch, Islamic Azad University, Yasooj, Iran.
EXCLI J. 2019 Jun 18;18:429-438. doi: 10.17179/excli2019-1374. eCollection 2019.
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.
TOX3和FOXA1蛋白被认为与乳腺癌易感性有关。作为单核苷酸多态性（SNP），位于[具体位置未给出]的[相关基因未明确]可能会影响FOXA1的DNA结合序列变化，因此可能增强FOXA1与[相关基因未明确]基因启动子的结合亲和力。本研究旨在调查这些SNP/单倍型与伊朗人群乳腺癌易感性之间的关联。我们对1072份血样进行了病例对照研究（505例乳腺癌患者和567例对照）。通过ARMS-PCR对[相关基因未明确]和[相关基因未明确]的SNP进行基因分型。此外，使用SPSS 20.0版（美国伊利诺伊州芝加哥市IBM公司）、PHASE v 2.1和SNP分析器2.0进行统计分析。在我们的研究人群中，[相关基因未明确]的等位基因和基因型与乳腺癌风险之间存在极显著的统计学关联（p<0.05）。此外，TA单倍型与乳腺癌风险之间存在显著关联（OR=0.78；95%CI（0.62 - 0.96）；P =0.025）。在这方面，尽管我们未观察到[相关基因未明确]与乳腺癌易感性之间存在统计学显著关联，但[相关基因未明确]和[相关基因未明确]SNP效应的组合也可能影响风险。这与其他研究一致，这些研究表明这些SNP是与风险相关的多态性，可能导致作为远端增强子的FOXA1与[相关基因未明确]的亲和力发生变化，从而导致[相关基因未明确]表达发生变化，最终可能影响乳腺癌风险。
