Correlation between Polymorphisms of Vitamin D Metabolism Genes and Perianal Disease in Crohn’s Disease
2024
Jessica Cusato | Carla Cafasso | Miriam Antonucci | Alice Palermiti | Alessandra Manca | Gian Paolo Caviglia | Marta Vernero | Angelo Armandi | Giorgio Maria Saracco | Antonio D’Avolio | Davide Giuseppe Ribaldone
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 <i>VDR</i>, <i>CYP27B1</i>, <i>CYP24A1</i>, and <i>GC</i> genetic variants. <i>VDR Apal</i> Aa genotype and <i>VDR BsmI</i> Bb genotype resulted in an association with pCD (<i>p</i> = 0.01 and <i>p</i> = 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.
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