Comparative Analysis of COL9A1 Genotyping in Oral Squamous Cell Carcinoma Diagnosis: A Pilot Study

Applied Sciences

Ciprian Ioan Roi¹  Mircea Riviș¹  Nicoleta Ioana Andreescu²  Madalina Veronica Boruga³  Alexandra Roi⁴  Laura-Cristina Rusu⁴  Cosmin Sinescu⁵  Meda-Lavinia Negruțiu⁵ 

[1]Department 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, Romania

[2]Department 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, Romania

[3]Department of Ophthalmology, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, Romania

[4]Department 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, Romania

[5]Department of Propedeutics, Victor Babeş University of Medicine and Pharmacy, Eftimie Murgu Sq. no.2, 300041 Timisoara, Romania

关键词: OSCC;    genetics;    COL9A1;    genotype;    biomarkers;    risk factors;   

DOI  :  10.3390/app112311102

来源: DOAJ

【 摘 要 】

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 (p < 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.

【 授权许可】

Unknown