title: Genetic variation in Transaldolase 1 and risk of squamous cell carcinoma of the head and neck.
abstract: BACKGROUND
  The Pentose Phosphate Pathway (PPP) is involved in the body's 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).
  
  
  CONCLUSIONS
  These results provide preliminary evidence that genetic polymorphisms in TALDO1 are associated with SCCHN.
authors.affiliation: Department of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7435, USA. Patricia_basta@unc.edu
authors.forename: Patricia V
authors.initials: PV
authors.lastname: Basta
authors.forename: Jeannette T
authors.initials: JT
authors.lastname: Bensen
authors.forename: Chiu-Kit
authors.initials: CK
authors.lastname: Tse
authors.forename: Charles M
authors.initials: CM
authors.lastname: Perou
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Sullivan
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Olshan
mesh_terms: D001741:Black or African American; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D014153:Transaldolase / Q000235:genetics*; D044465:White People
chemical_list: D014153:Transaldolase