Details

Autor(en) / Beteiligte

• Magic, Marko
• Zeljic, Katarina
• Jovandic, Stevo
• Stepic, Jelena
• Pejovic, Marko
• Colic, Snjezana
• Magic, Zvonko
• Supic, Gordana

Titel

Hedgehog signaling pathway and vitamin D receptor gene variants as potential risk factors in odontogenic cystic lesions

Ist Teil von

• Clinical oral investigations, 2019-06, Vol.23 (6), p.2675-2684

Ort / Verlag

Berlin/Heidelberg: Springer Berlin Heidelberg

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.