CASP9 c.-1339A>G and CASP3 c.-1191A>G polymorphisms alter susceptibility and clinical aspects of head and neck squamous cell carcinoma.

Abstract

Single nucleotide polymorphisms (SNPs) in genes that act in intrinsic apoptosis pathway may modulate cancer susceptibility. This study investigated the roles of CASP9 c.-1339A>G (rs4645978) and CASP3 c.-1191A>G (rs12108497) SNPs on risk and behavior of head and neck (HN) squamous cell carcinoma (SCC). DNA of 350 patients with HNSCC and 350 controls was analyzed by polymerase chain reaction method for genotyping. CASP3 c.-1191AG or GG genotype was more common in patients with HNSCC and oral cavity or oropharynx SCC than in controls; carriers of this genotype were under 2.15 and 2.81-fold increased risks of the respective tumors. CASP9 c.-1339AG or GG plus CASP3 c.-1191AG or GG genotypes were associated with oral cavity or oropharynx SCC early onset. These findings present, for the first time, preliminary evidence that inherited abnormalities related to CASP9 c.-1339A>G and CASP3 c.-1191A>G SNPs are determinants of HNSCC risk and clinical aspects.