The Nonsynonymous Polymorphisms Val276Met and Gly393Ser of E2F1 Gene are Strongly Associated with Lung, and Head and Neck Cancers.

Aim: The early gene factor-2 (E2F), a family of transcription factors, is involved in cell cycle regulation. Deregulated expression of most of the members of the E2F family is associated with various human cancers. In this study, we investigated the association between the E2F1 genetic variants rs3213173 (C/T) (Val276Met) and rs3213176 (G/A) (Gly393Ser) with the risk of lung cancer (LC) and head and neck cancer (HNC) in 190 patients and 230 control samples.

Materials And Methods: We used polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and mutagenic primer-based PCR-RFLP methods to genotype all target polymorphisms.

Results: The rs3213173 (C/T) polymorphism was associated with LC risk in the homozygous model (odds ratio [OR] = 2.954, 95% confidence interval [CI] 1.366-6.386; p = 0.004) as well as in heterozygous model (OR = 2.314; 95% CI = 1.369-3.912; p = 0.001). A significant association was also observed for the rs3213176 (G/A) polymorphism with LC risk in homozygous model, GG versus AA (OR = 2.750; 95% CI = 1.236-6.118; p = 0.01); in heterozygous model, GG versus GA (OR = 2.111; 95% CI = 1.256-3.549; p = 0.004); and in combined mutant GG versus GA+AA (OR = 2.214; 95% CI = 1.343-3.650; p = 0.001). The rs3213176 (G/A) marker was also associated with HNC risk.

Conclusions: Our findings reveal that the rs3213173 (C/T) and rs3213176 (G/A) polymorphisms of the E2F1 gene are genetic risk factors for susceptibility to LC and HNC in the North Indian Population.