Assessment of genetic susceptibility in patients with oral squamous cell carcinoma: a systematic review and meta-analysis

Background Oral squamous cell carcinoma (OSCC) is associated with many risk factors but not all individuals who are exposed to the risk factors develop OSCC. This aspect warrants the need to understand the genetic susceptibility in presence of risk factors. Methods The study protocol has been registered with PROSPERO (CRD42023422519). The present study included the English-language literature published from January 2000 to April 2024. The articles were searched using keywords via Ovid platform through various databases. The odds ratio was considered as standard measure of outcome. Meta-analysis was carried out using random effects model with RevMan 5.4, establishing a 95% confidence interval and a significance threshold of p ≤ 0.05. Results Taiwan, China, India, and USA share the major bulk of studies. The subgroup analysis shows polymorphism in P53 gene in presence of smoking ( Z = 2.15, p = 0.02), alcohol ( Z = 2.38, p = 0.02) and mixed habit (tobacco + alcohol) ( Z = 3.28, p ≤ 0.001) and CASP 8 ( Z = 5.38, p ≤ 0.0001) in presence of alcohol consumption habit has highly significant risk for development of OSCC; however the studies shows moderate heterogeneity ( I 2 = 40–50%). Certain genes such as HIF ( Z = 2.82, p = 0.05), MTNR1 ( Z = 12.12, p ≤ 0.0001) and DEC ( Z = 10.46, p ≤ 0.0001) shows statistically significant correlation in presence of smoking and chewing habit with very low heterogeneity ( I 2 = 0%). The CYP1 gene shows a highly significant ( p ≤ 0.0001) correlation ( Z = 3.11) in presence of mixed habit with 0% heterogeneity. Conclusions Asian countries show a large cluster of patients with a genetic risk for development of OSCC. Genetic factors such as P53, CASP 8, HIF, DEC1, MTNR1 and CYP1A1 show statistically significant risk for development of OSCC in the presence of risky environmental factors such as tobacco and alcohol.