Correlation between PTEN gene polymorphism and oral squamous cell carcinoma

Area of Science:

• Genetics
• Oncology
• Molecular Biology

Background:

• Oral squamous cell carcinoma (OSCC) is a prevalent malignancy.
• The phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene plays a crucial role in tumor suppression.
• Investigating PTEN gene polymorphism offers insights into OSCC susceptibility.

Purpose of the Study:

• To explore the correlation between PTEN gene polymorphism and the risk of developing oral squamous cell carcinoma (OSCC).
• To analyze PTEN protein expression levels in relation to specific PTEN gene genotypes in OSCC patients and healthy controls.

Main Methods:

• Quantitative polymerase chain reaction (qPCR), immunohistochemistry, and western blot analysis were employed.
• PTEN gene polymorphism was detected using PCR-restriction fragment length polymorphism (PCR-RFLP).
• Genotype frequencies and PTEN protein levels were compared between 33 OSCC patients and 33 healthy controls.

Main Results:

• PTEN protein expression was significantly lower in OSCC patients (2.37±1.01 µg/l) compared to healthy subjects (3.09±0.95 µg/l).
• A significant difference in the rs9651495 genotype was observed between groups (P<0.05).
• The C/C genotype frequency of rs9651495 was higher in OSCC patients (50.15%) than controls (23.71%), while the T/T genotype was lower (31.33% vs. 57.19%). Patients with the C/C genotype exhibited markedly lower PTEN protein expression.

Conclusions:

• PTEN gene polymorphism, specifically the rs9651495 genotype, is correlated with oral squamous cell carcinoma (OSCC).
• The higher frequency of the C/C genotype is associated with reduced PTEN protein expression, potentially contributing to OSCC development.
• These findings highlight the role of PTEN genetic variations in OSCC pathogenesis.