Abstract for presentation at 11th International Congress of Human Genetics

Investigation on the polymorphisms of CYP2E1, GSTM1, GSTT1, and GSTP1 genes in a group of patients with esophagitis

  • Prof Dertia Freire-Maia, Sao Paulo Federal University (UNIFESP), Brazil
  • Dr Ana Carolina Basilio-Palmieri, Paulista State University (UNESP), Brazil
  • Edilene Bortolozzo, Paulista State University (UNESP), Brazil
  • Dr Mauro Lerco, Paulista State University (UNESP), Brazil
  • Prof Maria Aparecida Henry, Paulista State University (UNESP), Brazil
  • Dr Marcelo Ladeira, Paulista State University (UNESP), Brazil
  • BSc Diego Alonso, Paulista State University (UNESP), Brazil
  • Leticia Olops, Paulista State University (UNESP), Brazil

    • Persistent Gastroesophageal Reflux Disease (GERD) induces irritation and inflammation in the esophageal mucosa, leading to reflux esophagitis. Among the esophagitis cases, around 12% develop Barrett’s esophagus, a stage with malignancy potential to develop esophageal adenocarcinoma. The CYP2E1 enzyme is able to activate pre-carcinogens responsible for inducing esophageal tumor. On the other hand, the GSTM1, GSTT1 and GSTP1 enzymes are responsible by detoxification of a wide range of carcinogenic compounds, as cigarette products and reactive oxygen species. We studied the polymorphisms of CYP2E1, GSTM1, GSTT1 and GSTP1 genes in 214 white individuals (68 patients with reflux esophagitis and 146 blood donors as controls), from the Clinical Hospital, Botucatú School of Medicine, UNESP, Brazil. Comparing the frequencies of smokers among patients (23.53%) and controls (13.01%), we obtained a result (X² = 3.75; P = 0.053) quite close to the previously established significance value. The odds ratio analysis (2.06; 95% Cl, 0.98 - 4.31) did not characterize a greater risk of smokers developing esophagitis. Patients and controls did not differ significantly in their frequencies of drinkers (39.70% and 37.67%; X² = 0.08; P > 0.05). No statistically significant difference was verified between patients and controls in relation to the frequencies of the GSTM1, GSTT1, and GSTP1 genotypes. Our data do not show therefore any evidence of an association between GSTM1, GSTT1 and GSTP1 genes and GERD. Regarding the CYP2E1 gene, the difference between the frequencies of the c1/c2 genotype in the patients (35.94%) and the controls (22.92%) was at the previously defined level of significance (X² = 3.82, P = 0.05). More studies are in development. CNPq

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