Avaliação de polimorfismos em genes de metabolismo do etanol e gene de reparo do DNA em pacientes portadores de câncer de boca [thesis]

Jean Tetsuo Takamori
Descritores: Etanol, acetaldeído, polimorfismo genético, álcool desidrogenase, aldeído desidrogenase, câncer da boca, carcinoma de células escamosas. ABSTRACT Takamori JT. Evaluation of polymorphisms in genes of ethanol metabolism and DNA repair gene in patients with oral cancer Squamous cell carcinoma is a neoplasm that may originate from the mucosal tissue from various sites of the upper aerodigestive tract, the tongue being the primary site with the highest incidence. Among the risk factors
more » ... or the disease are age, genomic mutations, smoking habit, and especially the consumption of ethanol. Ethanol is considered a co-carcinogenic agent in the development of oral cancer. Moreover, acetaldehyde, ethanol oxidation product, is toxic and is directly involved in carcinogenesis. Thus, genetic polymorphisms that alter the oxidation of ethanol to acetaldehyde by promoting its accumulation can alter the risk of oral cancer. The results suggest that patients with the ADH1C Ile350Val polymorphism have increased risk of becoming chronic drinkers (OR = 2.0199), but the risk of developing cancer is not changed when compared to non carriers. Since the carriers of polymorphisms in genes ADH1B Arg47His (OR = 0.3445), CY2E1 (ins) (OR =0.3261) and ALDH2 (GA) (OR = 0.4811) lower risk of developing oral cancer, but these polymorphisms were not associated with risk of becoming chronic drinkers .There was also a possible interaction between the low activity of the enzymeALDH2 and CYP2E1 gene expression as a protective factor in the development of oral cancer. However, we need more studies to confirm these findings.
doi:10.11606/d.5.2012.tde-01102012-163638 fatcat:a6ph6gffwvbcnmthrwtoonesou