Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions
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2019
Authors
Magić, Marko
Zeljić, Katarina

Jovandić, Stevo
Stepić, Jelena
Pejović, Marko
Čolić, Snježana
Magić, Zvonko
Supić, Gordana

Article (Published version)

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ObjectivesGenetic 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 methodsCurrent 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 18bp IVS1-83 polymorphism was determined by PCR.ResultsThe difference in genotype distribution between keratocyst cases and c...ontrol 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).ConclusionGLI1 rs2228224 and PTCH1 polymorphisms could predispose to odontogenic keratocysts.Clinical relevanceVariants 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.
Keywords:
Hedgehog signaling / Polymorphism / GLI1 / PTCH1 / Vitamin D receptor / Odontogenic keratocystsSource:
Clinical Oral Investigations, 2019, 23, 6, 2675-2684Publisher:
- Springer Heidelberg, Heidelberg
Funding / projects:
- Faculty of Medicine, Military Medical Academy, Belgrade, Serbia [MFVMA/11/16-18]
DOI: 10.1007/s00784-018-2686-5
ISSN: 1432-6981
PubMed: 30334169
WoS: 000467444800012
Scopus: 2-s2.0-85055490930
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Stomatološki fakultetTY - JOUR AU - Magić, Marko AU - Zeljić, Katarina AU - Jovandić, Stevo AU - Stepić, Jelena AU - Pejović, Marko AU - Čolić, Snježana AU - Magić, Zvonko AU - Supić, Gordana PY - 2019 UR - https://smile.stomf.bg.ac.rs/handle/123456789/2382 AB - ObjectivesGenetic 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 methodsCurrent 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 18bp IVS1-83 polymorphism was determined by PCR.ResultsThe 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).ConclusionGLI1 rs2228224 and PTCH1 polymorphisms could predispose to odontogenic keratocysts.Clinical relevanceVariants 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. PB - Springer Heidelberg, Heidelberg T2 - Clinical Oral Investigations T1 - Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions VL - 23 IS - 6 SP - 2675 EP - 2684 DO - 10.1007/s00784-018-2686-5 ER -
@article{ author = "Magić, Marko and Zeljić, Katarina and Jovandić, Stevo and Stepić, Jelena and Pejović, Marko and Čolić, Snježana and Magić, Zvonko and Supić, Gordana", year = "2019", abstract = "ObjectivesGenetic 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 methodsCurrent 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 18bp IVS1-83 polymorphism was determined by PCR.ResultsThe 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).ConclusionGLI1 rs2228224 and PTCH1 polymorphisms could predispose to odontogenic keratocysts.Clinical relevanceVariants 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.", publisher = "Springer Heidelberg, Heidelberg", journal = "Clinical Oral Investigations", title = "Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions", volume = "23", number = "6", pages = "2675-2684", doi = "10.1007/s00784-018-2686-5" }
Magić, M., Zeljić, K., Jovandić, S., Stepić, J., Pejović, M., Čolić, S., Magić, Z.,& Supić, G.. (2019). Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions. in Clinical Oral Investigations Springer Heidelberg, Heidelberg., 23(6), 2675-2684. https://doi.org/10.1007/s00784-018-2686-5
Magić M, Zeljić K, Jovandić S, Stepić J, Pejović M, Čolić S, Magić Z, Supić G. Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions. in Clinical Oral Investigations. 2019;23(6):2675-2684. doi:10.1007/s00784-018-2686-5 .
Magić, Marko, Zeljić, Katarina, Jovandić, Stevo, Stepić, Jelena, Pejović, Marko, Čolić, Snježana, Magić, Zvonko, Supić, Gordana, "Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions" in Clinical Oral Investigations, 23, no. 6 (2019):2675-2684, https://doi.org/10.1007/s00784-018-2686-5 . .