Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study
The epidemiology of OSCC continues to increase despite the progress that has been made. More than ever, the diagnostic approach process needs to focus on genetic and epigenetic alterations. The aim of our study was to identify and correlate the presence of COL9A1 gene variants in two types of sample...
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MDPI AG
2021-11-01
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| Online Access: | https://www.mdpi.com/2076-3417/11/23/11102 |
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| author | Alexandra Roi Nicoleta Ioana Andreescu Ciprian Ioan Roi Meda-Lavinia Negruțiu Cosmin Sinescu Mircea Riviș Madalina Veronica Boruga Laura-Cristina Rusu |
| author_facet | Alexandra Roi Nicoleta Ioana Andreescu Ciprian Ioan Roi Meda-Lavinia Negruțiu Cosmin Sinescu Mircea Riviș Madalina Veronica Boruga Laura-Cristina Rusu |
| author_sort | Alexandra Roi |
| collection | DOAJ |
| description | The epidemiology of OSCC continues to increase despite the progress that has been made. More than ever, the diagnostic approach process needs to focus on genetic and epigenetic alterations. The aim of our study was to identify and correlate the presence of COL9A1 gene variants in two types of samples from OSCC patients. Methods: Our pilot study included 32 subjects diagnosed with OSCC. Fresh tumour tissue and peripheral blood samples were used in order to identify the genotypes of the COL9A1 gene. Variables, such as age, gender and tobacco and alcohol use, were also taken into consideration. The DNA analysis of the samples was based on a tagged SNP (rs550675) for the allelic discrimination. Results: The statistical significance and correlation of the COL9A1 genotypes within the two categories of samples was statistically significant (<i>p</i> < 0.001) for the C/T and T/T genotypes, providing an important perspective on the potential identification in blood samples of the gene mutation encountered in OSCC. Conclusions: This is the first study that focused on providing preliminary results using blood samples via the identification of COL9A1 gene variants in OSCC patients. The possibility of introducing a liquid biomarker by targeting this genetic variant is an appealing perspective for screening and diagnosis. |
| first_indexed | 2024-03-10T04:58:36Z |
| format | Article |
| id | doaj.art-d7ccda87a8e9406dafc27ddf817e3568 |
| institution | Directory Open Access Journal |
| issn | 2076-3417 |
| language | English |
| last_indexed | 2024-03-10T04:58:36Z |
| publishDate | 2021-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Applied Sciences |
| spelling | doaj.art-d7ccda87a8e9406dafc27ddf817e35682023-11-23T02:02:31ZengMDPI AGApplied Sciences2076-34172021-11-0111231110210.3390/app112311102Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot StudyAlexandra Roi0Nicoleta Ioana Andreescu1Ciprian Ioan Roi2Meda-Lavinia Negruțiu3Cosmin Sinescu4Mircea Riviș5Madalina Veronica Boruga6Laura-Cristina Rusu7Department of Oral Pathology, Multidisciplinary Center for Research, Evaluation, Diagnosis and Therapies in Oral Medicine, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, RomaniaDepartment of Microscopic Morphology-Genetics, Center of Genomic Medicine, Multidisciplinary Center for Research, Evaluation, Diagnosis and Therapies in Oral Medicine, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timişoara, RomaniaDepartment of Anesthesiology and Oral Surgery, Multidisciplinary Center for Research, Evaluation, Diagnosis and Therapies in Oral Medicine, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 30041 Timişoara, RomaniaDepartment of Propedeutics, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, RomaniaDepartment of Propedeutics, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, RomaniaDepartment of Anesthesiology and Oral Surgery, Multidisciplinary Center for Research, Evaluation, Diagnosis and Therapies in Oral Medicine, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 30041 Timişoara, RomaniaDepartment of Ophthalmology, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, RomaniaDepartment of Oral Pathology, Multidisciplinary Center for Research, Evaluation, Diagnosis and Therapies in Oral Medicine, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, RomaniaThe epidemiology of OSCC continues to increase despite the progress that has been made. More than ever, the diagnostic approach process needs to focus on genetic and epigenetic alterations. The aim of our study was to identify and correlate the presence of COL9A1 gene variants in two types of samples from OSCC patients. Methods: Our pilot study included 32 subjects diagnosed with OSCC. Fresh tumour tissue and peripheral blood samples were used in order to identify the genotypes of the COL9A1 gene. Variables, such as age, gender and tobacco and alcohol use, were also taken into consideration. The DNA analysis of the samples was based on a tagged SNP (rs550675) for the allelic discrimination. Results: The statistical significance and correlation of the COL9A1 genotypes within the two categories of samples was statistically significant (<i>p</i> < 0.001) for the C/T and T/T genotypes, providing an important perspective on the potential identification in blood samples of the gene mutation encountered in OSCC. Conclusions: This is the first study that focused on providing preliminary results using blood samples via the identification of COL9A1 gene variants in OSCC patients. The possibility of introducing a liquid biomarker by targeting this genetic variant is an appealing perspective for screening and diagnosis.https://www.mdpi.com/2076-3417/11/23/11102OSCCgeneticsCOL9A1genotypebiomarkersrisk factors |
| spellingShingle | Alexandra Roi Nicoleta Ioana Andreescu Ciprian Ioan Roi Meda-Lavinia Negruțiu Cosmin Sinescu Mircea Riviș Madalina Veronica Boruga Laura-Cristina Rusu Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study Applied Sciences OSCC genetics COL9A1 genotype biomarkers risk factors |
| title | Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study |
| title_full | Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study |
| title_fullStr | Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study |
| title_full_unstemmed | Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study |
| title_short | Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study |
| title_sort | comparative analysis of col9a1 genotyping in oral squamous cell carcinoma diagnosis a pilot study |
| topic | OSCC genetics COL9A1 genotype biomarkers risk factors |
| url | https://www.mdpi.com/2076-3417/11/23/11102 |
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