4th Department of Internal Medicine, Faculty of Medicine, "Iuliu Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Department of Pharmaceutical Biochemistry and Clinical Laboratory, Faculty of Pharmacy, "Iuliu-Hațieganu" University of Medicine and Pharmacy, 400012 Cluj-Napoca, Romania.
Int J Mol Sci. 2024 Aug 17;25(16):8965. doi: 10.3390/ijms25168965.
Vitamin D deficiency and type 2 diabetes mellitus are risk factors for colorectal cancer, suggesting a role for vitamin D receptor (VDR) and insulin receptor (INSR) gene polymorphisms. We investigated the prevalence of the VDR-BsmI (rs1544410) and NsiI A/G-INSR (rs2059806) polymorphisms and their associations with colorectal adenoma (CRA) in a Romanian population. A case-control study was conducted with 110 participants (67 with CRA and 43 controls) who underwent colonoscopy. Polymerase chain reaction-restriction fragment length polymorphism analysis was used to determine the genotype and allele frequencies of the two polymorphisms. Regarding rs1544410 and CRA patients, genotype distribution was 35% B/B, 47% B/b, and 19% b/b. In the controls, the distribution was 21% B/B, 45% B/b, and 34% b/b. For rs2059806, 12% of CRA patients had A/A, 30% A/G, and 58% G/G, while 8% of the controls had A/A, 40% A/G, and 52% G/G. The recessive model showed an odds ratio of 2.84 (95% CI: 1.04-7.72, = 0.033) for the b/b genotype. CRA patients with b/b or G/G genotypes were diagnosed at a younger age. The b allele of the rs1544410 was a risk factor for CRA. Patients with the b/b and G/G genotypes were diagnosed earlier.
维生素 D 缺乏和 2 型糖尿病是结直肠癌的危险因素,这表明维生素 D 受体 (VDR) 和胰岛素受体 (INSR) 基因多态性可能发挥作用。我们研究了罗马尼亚人群中 VDR-BsmI (rs1544410) 和 NsiI A/G-INSR (rs2059806) 多态性的流行情况及其与结直肠腺瘤 (CRA) 的关系。我们进行了一项病例对照研究,共纳入 110 名参与者(67 名 CRA 患者和 43 名对照),所有参与者均接受了结肠镜检查。聚合酶链反应-限制性片段长度多态性分析用于确定两种多态性的基因型和等位基因频率。关于 rs1544410 和 CRA 患者,基因型分布为 35% B/B、47% B/b 和 19% b/b。在对照组中,分布为 21% B/B、45% B/b 和 34% b/b。对于 rs2059806,12%的 CRA 患者为 A/A,30%为 A/G,58%为 G/G,而 8%的对照组为 A/A,40%为 A/G,52%为 G/G。隐性模型显示 b/b 基因型的比值比为 2.84(95%CI:1.04-7.72, = 0.033)。b/b 或 G/G 基因型的 CRA 患者的诊断年龄较小。rs1544410 的 b 等位基因是 CRA 的危险因素。b/b 和 G/G 基因型的患者更早被诊断出来。