Abstract

Breast cancer is the most common cancer in women worldwide with remarkable proportion of the patients in advanced stage. Recently the importance of genetic mutations in cancers are well established and also the role of tumor suppressor genes such as FHIT gene in both heritable and non-heritable cancer. MicroRNAs are a class of non-coding RNAs which can interfere with cellular regulation. In this study, the association of rs73092672 which is located within the FHIT gene and the 3’UTR of hsa-miR-509-5p with the susceptibility to breast cancer risk has been studied in the Iranian population. By using the PCR_RFLP, the genotype rs73092672 was determined in 90 patients and 100 control subjects. The genotypes of the individuals were analyzed statistically to find the association between rs73092672 and the breast cancer incidence. The results revealed that due to the dominance of the C allele, the frequency of CC + CT genotypes, as compared with TT, had a significant correlation with the incidence of this disease in controls and cases (p = 0.02; OR= 3.6). Moreover, Bioinformatics analysis suggests rs73092672 as a polymorphism in the 3’UTR of hsa-miR-509-5p with higher binding affinity in the presence of T allele than C allele.

摘要

乳腺癌是全球女性中最常见的癌症，晚期患者比例显着。最近，基因突变在癌症中的重要性以及肿瘤抑制基因（如FHIT基因）在遗传性和非遗传性癌症中的作用已得到充分证实。MicroRNA 是一类可以干扰细胞调节的非编码 RNA。在本研究中，位于FHIT内的 rs73092672 的关联已经在伊朗人群中研究了具有乳腺癌风险易感性的 hsa-miR-509-5p 基因和 3'UTR。通过使用 PCR_RFLP，在 90 名患者和 100 名对照受试者中确定了基因型 rs73092672。对个体的基因型进行统计分析，以发现 rs73092672 与乳腺癌发病率之间的关联。结果显示，由于 C 等位基因的优势，CC + CT 基因型的频率与 TT 相比，与对照和病例中该疾病的发生率具有显着相关性（p  = 0.02；OR = 3.6）。此外，生物信息学分析表明 rs73092672 作为 hsa-miR-509-5p 的 3'UTR 中的多态性，在存在 T 等位基因的情况下具有比 C 等位基因更高的结合亲和力。