Genetic polymorphisms as non-modifiable susceptibility factors to laryngeal cancer

Autor: Matías F. Martínez, Sebastian Molina-Mellico, Dante Cáceres, Nelson Varela, Miguel Cancino, Suárez M, Christopher Sandoval, Luis A. Quiñones, Leslie Cerpa, Tamara Barría, Maritza Rahal, Paula Escalante
Rok vydání: 2020
Předmět:
Male
0301 basic medicine
Oncology
Respiratory System
medicine.disease_cause
Biochemistry
Molecular Bases of Health & Disease
0302 clinical medicine
Laryngeal cancer
Risk Factors
Genotype
TP53
Chile
Research Articles
Cancer
education.field_of_study
PTGS2
Genomics
Middle Aged
Penetrance
ErbB Receptors
030220 oncology & carcinogenesis
Female
Restriction fragment length polymorphism
medicine.medical_specialty
Alcohol Drinking
EGFR
Population
Biophysics
Single-nucleotide polymorphism
Biology
Polymorphism
Single Nucleotide
Cigarette Smoking
03 medical and health sciences
Internal medicine
Biomarkers
Tumor
medicine
Humans
SNP
Genetic Predisposition to Disease
Polymorphism
education
Laryngeal Neoplasms
Molecular Biology
EGF
Aged
Epidermal Growth Factor
Squamous Cell Carcinoma of Head and Neck
Cell Biology
Odds ratio
030104 developmental biology
Cyclooxygenase 2
Case-Control Studies
Tumor Suppressor Protein p53
Carcinogenesis
Biomarkers
Zdroj: Bioscience Reports
ISSN: 1573-4935
0144-8463
Popis: Laryngeal squamous cell carcinoma (LSCC) is a highly disabling disease to the patient, affecting speech, swallowing and respiratory skills. Smoking and alcohol abuse are principal risk factors linked to this disease. Genetic factors can be involved in carcinogenesis by controlling the cell cycle, cell survival, angiogenesis, and invasiveness. Single nucleotide polymorphisms (SNPs) involving specific genes could modulate the risk of LSCC related to known carcinogens by modifying cellular responses, but not all genetic associations are known. In a case–control study, we assess the associations between cyclooxygenase-2 (COX2), epidermal growth factor (EGF), EGF receptor (EGFR), and tumor suppressor P53 SNPs on the risk of LSCC development in the Chilean population. A total of 85 LSCC patients and 95 healthy volunteers were recruited. SNPs genotype were analyzed from genomic DNA by Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (RFLP) and associations were estimated by odds ratios (ORs) using unconditional logistic regressions. A significant association between COX2 and TP53 SNP and LSCC risk was found, with an OR = 3.27 for COX2 c.-1329A>G (rs689466) SNP, and an OR = 1.94 for TP53 c.215C>G, Pro72Arg (rs1042522) SNP. These findings suggest that COX2 c.-1329A>G and TP53 c.215C>G (Pro72Arg) SNPs may be risk factors for LSCC. Through this research, we identify two low penetrance genetic variants that may be evaluated as novel biomarkers for this disease, in South American Mestizo populations.
Databáze: OpenAIRE
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