title: Association of methylenetetrahydrofolate reductase C677T-A1298C polymorphisms with risk for esophageal adenocarcinoma, Barrett's esophagus, and reflux esophagitis.
abstract: Incidence of the esophagus adenocarcinoma has been dramatically increasing in Western countries since the last decade. Gastroesophageal reflux disease and Barrett's esophagus are risk factors for adenocarcinoma. Methylenetetrahydrofolate reductase (MTHFR) genes play a key role not only in folate metabolism but also in esophagus, stomach, pancreatic carcinoma, and acute leukemias. Studies have suggested that genetic polymorphisms of MTHFR (C677T) may clarify the causes and events involved in esophageal carcinogenesis. In this study, we evaluated MTHFR C677T and A1298C polymorphisms, and vitamin B12, folate, and plasma homocystein levels in patients with esophageal adenocarcinoma (EAC), Barrett's esophagus (BE), chronic esophagitis, and healthy controls (n = 26, n = 14, n = 30, and n = 30, respectively). The mean age of patients in the EAC and BE groups was significantly higher compared with the control group (P < 0.001, P = 0.003, respectively). In all patient groups, serum folate levels were significantly lower than that of the control group (P < 0.01, P < 0.05, and P < 0.01, respectively). There was no statistically significant association between folate levels and MTHFR gene polymorphisms. No differences were found in terms of MTHFR gene polymorphisms, homocystein, and B12 levels among the groups. MTHFR gene polymorphisms and folate deficiency are not predictors of early esophageal carcinoma. However, further studies using larger series of patients are needed to evaluate the effect of genetic polymorphisms in the folate metabolic pathway and to clarify the role of folate deficiency and folate metabolism in the development of esophagus adenocarcinoma.
authors.affiliation: Department of Gastroenterology, Dıskapı Yıldırım Beyazıt Educational and Research Hospital, Ankara, Turkey. dr_ekiz@yahoo.com
authors.forename: F
authors.initials: F
authors.lastname: Ekiz
authors.forename: N
authors.initials: N
authors.lastname: Ormeci
authors.forename: S
authors.initials: S
authors.lastname: Coban
authors.forename: H G
authors.initials: HG
authors.lastname: Karabulut
authors.forename: B
authors.initials: B
authors.lastname: Aktas
authors.forename: A
authors.initials: A
authors.lastname: Tukun
authors.forename: T
authors.initials: T
authors.lastname: Tuncali
authors.forename: O
authors.initials: O
authors.lastname: Yüksel
authors.forename: N
authors.initials: N
authors.lastname: Alkış
mesh_terms: D000230:Adenocarcinoma / Q000209:etiology / Q000235:genetics*; D000328:Adult; D000368:Aged; D001471:Barrett Esophagus / Q000209:etiology / Q000235:genetics*; D016022:Case-Control Studies; D004938:Esophageal Neoplasms / Q000209:etiology / Q000235:genetics*; D004942:Esophagitis, Peptic / Q000209:etiology / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000097:blood; D005494:Folic Acid Deficiency / Q000150:complications; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)