Please use this identifier to cite or link to this item: https://biore.bio.bg.ac.rs/handle/123456789/343
Title: Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions
Authors: Magic, Marko
Zeljić, Katarina 
Jovandic, Stevo
Stepic, Jelena
Pejovic, Marko
Colic, Snjezana
Magic, Zvonko
Supic, Gordana
Keywords: GLI1;Hedgehog signaling;Odontogenic keratocysts;Polymorphism;PTCH1;Vitamin D receptor
Issue Date: 1-Jun-2019
Rank: M21
Journal: Clinical Oral Investigations
Abstract: 
© 2018, Springer-Verlag GmbH Germany, part of Springer Nature. Objectives: Genetic variants in the hedgehog signaling pathway and VDR gene are involved in inflammatory responses and neoplastic transformation. Current study investigated whether single-nucleotide polymorphisms in the hedgehog pathway genes PTCH1, GLI1, SMO, and VDR contribute to susceptibility to odontogenic cystic lesions, odontogenic keratocysts, or inflammatory radicular cysts. Material and methods: Current study examined polymorphisms of PTCH1 (rs357564) and PTCH1 insertion (IVS1-83), GLI1 (rs2228224, rs2228226), SMO (rs2228617), and VDR (rs2228570, rs731236, rs7975232). A case-control study was conducted on 41 keratocyst cases, 43 radicular cyst cases, and control group of 93 healthy individuals without cystic lesions, radiographically confirmed. Single-nucleotide polymorphisms were assessed by real-time and TaqMan SNP genotyping assays, while PTCH1 insertion 18 bp IVS1-83 polymorphism was determined by PCR. Results: The difference in genotype distribution between keratocyst cases and control group was observed for PTCH1 IVS1-83 and GLI1 rs2228224 polymorphism (p = 0.022, p = 0.030, respectively). Homozygous mutant GG genotype within GLI1 rs2228224 is associated with increased susceptibility for odontogenous keratocysts, with adjusted odds ratio of 4.098 (confidence interval of 1.482–11.328, p = 0.007). Conclusion: GLI1 rs2228224 and PTCH1 polymorphisms could predispose to odontogenic keratocysts. Clinical relevance: Variants in hedgehog signaling pathway genes, such as GLI1 and PTCH1, and vitamin D receptor gene, might be considered as molecular risk factors in odontogenic cystic lesions and potential targets for novel therapeutic approaches.
URI: https://biore.bio.bg.ac.rs/handle/123456789/343
ISSN: 1432-6981
DOI: 10.1007/s00784-018-2686-5
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