Departamento de Farmacología and CIBERehd, Facultad de Medicina, Universidad de Valencia, Av. Blasco Ibáñez, 15, 46010 Valencia, Spain.
Departamento de Medicina and CIBERehd, Facultad de Medicina, Universidad de Valencia, Av. Blasco Ibáñez, 15, 46010 Valencia, Spain.
Nutrients. 2024 Oct 14;16(20):3485. doi: 10.3390/nu16203485.
Vitamin D, through the activation of its receptor (VDR), plays an immunomodulatory role in the gastrointestinal tract. Single-nucleotide polymorphisms (SNPs) in the VDR gene have been associated with Crohn's disease (CD) risk, and patients carrying the polymorphism in this gene run a higher risk of developing a penetrating behavior.
We analyzed the association of , , , and SNPs in the gene with the clinical characteristics of CD.
Four polymorphisms identified in the gene (, , , and ) were genotyped in blood samples from CD patients (n = 115) by using PCR-RFLP. The disease's location and behavior and the presence of perianal fistulas were collected from each patient. Intestinal fibroblasts from ileal resections of CD patients (n = 10) were genotyped, and the expression of fibrotic and inflammatory markers was analyzed by RT-PCR.
The data reveal no association between any of the polymorphisms and CD risk. A strong linkage disequilibrium was detected between and both and , which in turn were strongly associated. Homozygosis or heterozygosis for the a allele of the SNP or b allele of the SNP was significantly associated with a lower risk of a penetrating behavior, while the aa genotype was associated with a lower risk of perianal fistulas. Fibroblasts carrying the aa genotype expressed lower levels of fibrotic and inflammatory markers.
The aa genotype of the SNP in the gene is associated with a lower risk of perianal fistulas in CD and a reduced expression of fibrotic and inflammatory markers in intestinal fibroblasts.
维生素 D 通过其受体 (VDR) 的激活，在胃肠道中发挥免疫调节作用。VDR 基因中的单核苷酸多态性 (SNP) 与克罗恩病 (CD) 的风险相关，携带该基因多态性的患者发生穿透性行为的风险更高。
我们分析了 VDR 基因中的 、 、 和 SNPs 与 CD 的临床特征之间的关联。
通过 PCR-RFLP 方法，在来自 CD 患者（n=115）的血液样本中对 VDR 基因中的 4 个 SNP（ 、 、 和 ）进行基因分型。从每位患者中收集疾病的位置和行为以及肛周瘘管的存在情况。对 CD 患者的回肠切除物中的肠成纤维细胞进行基因分型，并通过 RT-PCR 分析纤维化和炎症标志物的表达。
数据显示，任何 SNP 与 CD 风险均无关联。发现 与 和 之间存在强连锁不平衡，而 与 之间也存在强关联。 SNP 的 a 等位基因或 SNP 的 b 等位基因的纯合子或杂合子与穿透性行为的风险较低显著相关，而 aa 基因型与肛周瘘管的风险较低相关。携带 aa 基因型的成纤维细胞表达较低水平的纤维化和炎症标志物。
VDR 基因中 SNP 的 aa 基因型与 CD 患者肛周瘘管的风险较低以及肠成纤维细胞中纤维化和炎症标志物的表达降低相关。
