Cusato Jessica, Cafasso Carla, Antonucci Miriam, Palermiti Alice, Manca Alessandra, Caviglia Gian Paolo, Vernero Marta, Armandi Angelo, Saracco Giorgio Maria, D'Avolio Antonio, Ribaldone Davide Giuseppe
Department of Medical Sciences, Division of Gastroenterology, University of Torino, 10126 Turin, Italy.
SCDU Infectious Diseases, Amedeo di Savoia Hospital, ASL Città di Torino, 10149 Turin, Italy.
Biomedicines. 2024 Jan 30;12(2):320. doi: 10.3390/biomedicines12020320.
Although the role of vitamin D (VD) in the pathogenesis and progression of Crohn's disease (CD) is known, the association between single-nucleotide polymorphisms (SNPs) of genes linked to vitamin D pathway and CD risk is still under study. Furthermore, no significant association has been previously found between these SNPs and perianal CD (pCD), a severe phenotypic manifestation of CD that may present as perianal fistula, abscess, and recto-vaginal fistula. Among the mechanisms involved in its pathogenesis, local inflammation and intestinal microbiota alteration are recognized. VD seems to act on these elements. The aim of this study was to evaluate the presence of an association between SNPs of genes coding for enzymes, transporters, and receptors involved in the VD pathway and the occurrence of pCD. Blood samples of 206 patients with CD, including 34 with pCD, were analyzed for , , , and genetic variants. Aa genotype and Bb genotype resulted in an association with pCD ( = 0.01 and = 0.02, respectively). Our study demonstrates for the first time the impact of the polymorphisms of genes associated with the VD pathway on the onset of pCD. Future multicenter studies are needed to confirm these data.
尽管维生素D（VD）在克罗恩病（CD）的发病机制和进展中的作用已为人所知，但与维生素D途径相关的基因单核苷酸多态性（SNP）与CD风险之间的关联仍在研究中。此外，此前尚未发现这些SNP与肛周CD（pCD）之间存在显著关联，pCD是CD的一种严重表型表现，可能表现为肛周瘘管、脓肿和直肠阴道瘘。在其发病机制涉及的诸多机制中，局部炎症和肠道微生物群改变是公认的。VD似乎作用于这些因素。本研究的目的是评估参与VD途径的酶、转运蛋白和受体编码基因的SNP与pCD发生之间是否存在关联。对206例CD患者的血样进行分析，其中包括34例pCD患者，检测其 、 、 和 基因变异。Aa基因型和Bb基因型与pCD存在关联（分别为P = 0.01和P = 0.02）。我们的研究首次证明了与VD途径相关的基因多态性对pCD发病的影响。未来需要多中心研究来证实这些数据。
