Genetic analysis of genes GSTP1, PTEN, and TP53 SNPs in non-melanoma skin cancer patients

BACKGROUND AND OBJECTIVE: One of the most prevalent cancers in the world, non-melanoma skin cancer (NMSC) is impacted by several genetic, demographic, and environmental factors. METHODOLOGY: This case-control study examined the relationship between NMSC susceptibility and GSTP1 (rs1695), PTEN (rs701848), and TP53 (rs17878362) polymorphisms in 300 Pakistani patients and 300 healthy controls. Additionally assessed were demographic factors such as age, gender, smoking status, and family history. RESULTS: The findings showed a strong correlation between the risk of NMSC and all three SNPs. The heterozygous mutant genotype (AG) of GSTP1 rs1695 was significantly (p = 0.0053) associated with a higher risk of NMSC with a family history, while its heterozygote genotype (AG) was associated with smoking (p = 0.0001). The AG genotype was associated with an increased risk of disease in males and GG showed a significant (p = 0.0010) protective association in females. The heterozygous mutant (AG) genotype in the < 43 age while the homozygous mutant (GG) showed a lower disease risk (p = 0.0029) in the > 43 age group. Patients had a higher frequency of the heterozygous AG genotype (166, 55%) than controls (87, 29%) and homozygous mutant GG genotype (17, 6%) than controls (58, 19%), indicating a significant protective effect (OR = 0.25, 95% CI: 0.1-0.4; p = 0.0001). CONCLUSION: These correlations held true for age, gender, smoking status, and family history subgroups. The results indicate that these polymorphisms may function as potential genetic biomarkers for early detection and risk prediction, highlighting the crucial role of detoxification, tumor-suppressor, and DNA repair pathways in NMSC development. To confirm these findings, more extensive and useful research is advised.