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Abstract：
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 VDR, CYP27B1, CYP24A1, and GC genetic variants. VDR Apal Aa genotype and VDR BsmI Bb genotype resulted in an association with pCD (p = 0.01 and p = 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.
摘要：
虽然维生素D（VD）在克罗恩病（CD）的发病机制和进展中的作用是已知的，维生素D途径相关基因的单核苷酸多态性(SNPs)与CD风险之间的关联仍在研究中.此外，以前没有发现这些SNP与肛周CD（pCD）之间存在显着关联，CD的严重表型表现，可能表现为肛周瘘，脓肿,和直肠阴道瘘.在其发病机制中，局部炎症和肠道微生物群的改变是公认的。VD似乎对这些元素起作用。这项研究的目的是评估编码酶的基因的SNP之间是否存在关联，运输商,和受体参与VD通路和pCD的发生。206例CD患者的血液样本，包括34个带pCD的，进行了VDR分析，CYP27B1、CYP24A1和GC遗传变异。VDRApalAa基因型和VDRBsmIBb基因型导致与pCD相关（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发作的影响。需要未来的多中心研究来证实这些数据。
