Doctoral School, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Curr Oncol. 2024 Oct 21;31(10):6406-6418. doi: 10.3390/curroncol31100476.
Colorectal cancer (CRC) is a major public health problem worldwide, currently ranking third in cancer incidence and second in mortality. Multiple genes and environmental factors have been involved in the complex and multifactorial process of CRC carcinogenesis. VDR is an intracellular hormone receptor expressed in both normal epithelial and cancer colon cells at various levels. Several VDR gene polymorphisms, including FokI and BsmI, have been evaluated for their possible association with CRC susceptibility. The aim of our study was to investigate these two SNPs for the first time in Romanian CRC patients. FokI (rs228570 C>T) and BsmI (rs1544410 A>G) were genotyped by real-time polymerase chain reaction (RT-PCR) in 384-well plates using specific TaqMan predesigned probes on a ViiA™ 7 RT-PCR System. A total of 441 subjects (166 CRC patients and 275 healthy controls) were included. No statistically significant difference was observed between CRC patients and controls when we compared the wild-type genotype with heterozygous and mutant genotypes for both FokI (OR 0.85, 95% CI: 0.56-1.28; OR 0.95, 95% CI: 0.51-1.79, respectively) and BsmI (OR 0.97, 95% CI: 0.63-1.49; OR 1.10, 95% CI: 0.65-1.87, respectively) or in the dominant and recessive models. Also, we compared allele frequencies, and no correlation was found. Moreover, the association between these SNPs and the tumor site, TNM stage, and histological type was examined separately, and there was no statistically significant difference. In conclusion, our study did not show any association between FokI and BsmI SNPs and CRC susceptibility in a Romanian population. Further studies including a larger number of samples are needed to improve our knowledge regarding the influence of VDR polymorphism on CRC susceptibility.
结直肠癌（CRC）是全球主要的公共卫生问题，目前在癌症发病率中排名第三，死亡率排名第二。多种基因和环境因素参与了结直肠癌发生的复杂和多因素过程。VDR 是一种细胞内激素受体，在正常上皮细胞和结肠癌细胞中以不同水平表达。已经评估了多个 VDR 基因多态性，包括 FokI 和 BsmI，以评估它们与 CRC 易感性的可能关联。我们的研究目的是首次在罗马尼亚 CRC 患者中研究这两个 SNP。FokI(rs228570 C>T)和 BsmI(rs1544410 A>G)通过实时聚合酶链反应（RT-PCR）在 384 孔板中进行基因分型，使用特定的 TaqMan 设计探针在 ViiA™7 RT-PCR 系统上进行。共纳入 441 例受试者（166 例 CRC 患者和 275 例健康对照者）。当我们比较 FokI(rs228570 C>T)和 BsmI(rs1544410 A>G)的野生型基因型与杂合子和突变基因型时，CRC 患者和对照组之间没有观察到统计学上的显著差异（OR0.85，95%CI：0.56-1.28；OR0.95，95%CI：0.51-1.79），或在显性和隐性模型中。同样，我们比较了等位基因频率，没有发现相关性。此外，我们分别检查了这些 SNP 与肿瘤部位、TNM 分期和组织学类型之间的关联，没有发现统计学上的显著差异。总之，我们的研究没有显示 FokI 和 BsmI SNP 与罗马尼亚人群 CRC 易感性之间存在任何关联。需要进一步的研究，包括更多的样本，以提高我们对 VDR 多态性对 CRC 易感性影响的认识。
