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

Magić, Marko; Zeljić, Katarina; Jovandic, Stevo; Stepić, Jelena; Pejovic, Marko; Colic, Snjezana; Magić, Zvonko; Šupić, Gordana

doi:10.1007/s00784-018-2686-5

Cited by 8 publications

(12 citation statements)

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“…Because PTCH1 has a sterol-sensing domain, long-term exogenous hormone use is reportedly related to breast cancer risk. Although the above three SNPs were also detected in wild-type PTCH1 in this family, it was recently suggested that SNPs in key genes involved in the HH signaling pathway are associated with susceptibility to odontogenic cystic lesions 16 .…”

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confidence: 67%

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

et al. 2020

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Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is inherited in an autosomal dominant manner and is characterized by a combination of developmental abnormalities and a predisposition to tumor formation. Hedgehog receptor Patched 1 (PTCH1) has been identified as the mutated gene in NBCCS. We identified the PTCH1_c.3298_3299insAAG_p.1099_1100insE mutation in the transmembrane region, which comprises a sterol transporter whose abnormal function is reportedly related to pathogenicity.

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confidence: 67%

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

et al. 2020

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“…As for OKC, significant associations were observed for survivin ‐31G/C (Andric et al., 2012), IL‐1α ‐889 C/T (Eshghyar et al., 2012), p53 codon 72 G/C (Yanatatsaneejit et al., 2015), TNF‐α (−308G>A) and TNF‐R1 (36A>G; Ilic et al., 2017), GLI1 (rs2228224; Magic et al., 2019), and MMP2 rs243865 [−1306 C/T] (Aloka et al., 2019) gene polymorphisms.…”

Section: Resultsmentioning

confidence: 99%

“…Two studies analyzed p53 gene polymorphisms (Kitkumthorn et al., 2010; Yanatatsaneejit et al., 2015) and one study analyzed XRCC1 gene, encoding X‐ray repair cross‐complementing protein 1 (Yanatatsaneejit et al., 2013). As expected, genes encoding proteins of the hedgehog signaling pathway PTCH, Smoothened and Glioma‐associated oncogene homolog 1 (PTCH1, SMO, and GLI1) were included in several studies (Kawabata et al., 2005; Magic et al., 2019) and one study analyzed gene polymorphism of anti‐apoptotic protein survivin (Andric et al., 2012).…”

Section: Resultsmentioning

confidence: 99%

“…Two studies were found to be of high quality (Magic et al., 2019; Yanatatsaneejit et al., 2013), seven of moderate (Aloka et al., 2019; Andric et al., 2012; Eshghyar et al., 2012; Ilic et al., 2017; Kawabata et al., 2005; Kitkumthorn et al., 2010; Yanatatsaneejit et al., 2015) and one of low quality (Sengüven & Oygür, 2011). Detailed results of STREGA assessment are presented in Table .…”

Section: Resultsmentioning

confidence: 99%

“…As expected, genes encoding proteins of the hedgehog signaling pathway PTCH, Smoothened and Glioma-associated oncogene homolog 1 (PTCH1, SMO, and GLI1) were included in several studies (Kawabata et al, 2005;Magic et al, 2019) and one study analyzed gene polymorphism of anti-apoptotic protein survivin (Andric et al, 2012).…”

Section: Main Outcomesmentioning

confidence: 99%

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Gene polymorphisms in odontogenic keratocysts and ameloblastomas: A systematic review

et al. 2021

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Objectives:The aim of this systematic review was to critically analyze available data on gene polymorphisms in odontogenic keratocysts (OKC) and ameloblastomas, including their possible relationship with clinical and histological features of these lesions. Materials and Methods: A comprehensive search of Web of Science Scopus, PubMed, Cochrane Central Register of Controlled Trials and EMBASE was conducted using relevant key terms and supplemented by a gray literature search. Quality assessment of included studies was performed using criteria from the Strengthening the Reporting of Genetic Association (STREGA) statement. Results: Ten studies were included in the final review. Survivin -31G/C, interleukin IL-1α -889 C/T, p53 codon 72 G/C, tumor necrosis factor TNFα (−308G>A) and itsreceptor TNF-R1 (36A>G), glioma-associated oncogene homolog 1 rs2228224 and matrix metalloproteinase 2 rs243865 gene polymorphisms were reported to be associated with OKC. For ameloblastomas, p53 codon 72 G/C, X-ray repair crosscomplementing protein 1-codons 194 and 399 and matrix metalloproteinase 9 rs3918242 gene polymorphisms were identified as risk factors. It was not possible to establish a relationship between specific polymorphisms and clinical and histological features of investigated lesions. Conclusions:Several gene polymorphisms might be considered as a risk factor for the development of these lesions. Future studies should investigate whether these polymorphisms might be used to identify patients with increased risk of recurrence or aggressive disease.

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PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

Zambrano‐Román,

Padilla‐Gutiérrez,

Valle

et al. 2024

Clinical Laboratory Analysis

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BackgroundBasal cell carcinoma (BCC) represents about 80% of all cases of skin cancer. The PTCH1 is a transmembrane protein of the Sonic Hedgehog signaling pathway that regulates cell proliferation. Genetic variants in PTCH1 gene have been previously described in association with BCC development. In addition, PTCH1 mRNA and protein expression analysis are also significant to understand its role in skin cancer physiopathology.MethodsAn analytical cross‐sectional study was performed, and a total of 250 BCC patients and 290 subjects from the control group (CG) were included, all born in western Mexico. The genotypes and relative expression of the mRNA were determined by TaqMan® assay. The protein expression was investigated in 70 BCC paraffin‐embedded samples with PTCH1 antibodies. Semi‐quantitative analysis was performed to determine the expression level in the immunostained cells.ResultsWe did not find evidence of an association between PTCH1 rs357564, rs2297086, rs2236405, and rs41313327 genetic variants and susceptibility to BCC. Likewise, no statistically significant differences were found in the comparison of the mRNA level expression between BCC and CG (p > 0.05). The PTCH1 protein showed a low expression in 6 of the analyzed samples and moderate expression in 1 sample. No association was found between genetic variants, protein expression, and demographic‐clinical characteristics (p > 0.05).ConclusionThe studied PTCH1 variants may not be associated with BCC development in the Western Mexico population. The PTCH1 mRNA levels were lower in patients with BCC compared to the control group, but its protein was underexpressed in the tissue samples.

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

Cited by 8 publications

References 50 publications

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Novel PTCH1 mutations in Japanese familial nevoid basal cell carcinoma syndrome

Gene polymorphisms in odontogenic keratocysts and ameloblastomas: A systematic review

PTCH1 gene variants rs357564, rs2236405, rs2297086 and rs41313327, mRNA and tissue expression in basal cell carcinoma patients from Western Mexico

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