Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck

Background: The Pentose Phosphate Pathway (PPP) is involved in the bodyʹs protection against oxidative stress and resistance/susceptibility to apoptosis and thus has been implicated in tumor development and progression. Here we present data examining the association of genetic variation in one of the key enzymes of the PPP, Transaldolase 1 (TALDO1) with squamous cell carcinoma of the head and neck (SCCHN). Methods: We performed sequencing analysis to identify common genetic variations in TALDO1 and then investigated their association with SCCHN using samples from a population-based case/control study with both European American (EA) and African American (AA) former and current smokers. Results: We identified three polymorphisms in TALDO1 that were associated with SCCHN risk in our EA study population. Specifically the 5′ upstream variant −490C > G or T (rs10794338), which we identified as tri-allelic, showed a reduced risk compared with any presence of the common allele, odds ratio (OR) [95% confidence interval (95% CI)]: 0.57 (0.38–0.86). Additionally two intronic high frequency polymorphisms demonstrated a positive association with disease, with the presence of the variant IVS1 + 1874T > A (rs3901233), 1.76 (1.19–2.61) and IVS4 + 2187A > C (rs4963163), 1.71 (1.16–2.53). Conclusion: These results provide preliminary evidence that genetic polymorphisms in TALDO1 are associated with SCCHN.