title: CYP2E1 RsaI and  96-bp insertion genetic polymorphisms associated with risk for colorectal  cancer.
abstract: We  investigated a possible association between alcoholism, cigarette smoking,  obesity and CYP2E1 RsaI and 96-bp insertion genetic polymorphisms with  risk for colorectal cancer (CRC). Patients with CRC (70 women and 61 men) were  matched for gender and age to 206 healthy controls. The mean age of the two  groups was 62 years. Meat intake, cigarette smoking and alcohol drinking were assessed  using a specific frequency questionnaire. The body mass index was also  calculated. DNA was extracted from peripheral blood; RsaI polymorphism  genotypes were evaluated by PCR-RFLP and 96-bp insertion genetic polymorphisms  were evaluated by specific primers. The distributions of CYP2E1 RsaI  c1/c1, c1/c2 and c2/c2 genotypes were 90.2, 9.2 and 0.6%, respectively, in  controls and 83.9, 13.7 and 2.4% in CRC cases. Allele c2 was associated with  increased risk for CRC [odds ratio (OR) = 1.88, 95% confidence interval (95%CI)  = 1.02-3.45]. The CYP2E1 RsaI c2/c2 genotype was associated with an  increased risk for rectal cancer (OR = 3.23, 95%CI = 1.26-9.03). The 96-bp  insertion was slightly more frequent in the CRC group (9.3 vs 11.4%, P =  0.19), especially in females (6.4 vs 11.5%, P = 0.34). Smoking, alcohol  drinking or high intake of red meat and CYP2E1 polymorphisms were not  associated with increased risk for CRC. The 96-bp insertion was marginally more  frequent (P = 0.07) in undernourished CRC subjects. We concluded that the risk  for CRC is higher among individuals with allele c2. The CYP2E1 RsaI  c2/c2 genotype was associated with an increased risk for rectal cancer.
authors.affiliation: Setor de Oncologia, Disciplina de Gastroenterologia, Universidade Federal de São Paulo, São Paulo, SP, Brasil.
authors.forename: T D
authors.initials: TD
authors.lastname: Silva
authors.forename: A V
authors.initials: AV
authors.lastname: Felipe
authors.forename: C A M
authors.initials: CA
authors.lastname: Pimenta
authors.forename: K
authors.initials: K
authors.lastname: Barão
authors.forename: N M
authors.initials: NM
authors.lastname: Forones
mesh_terms: D020029:Base Pairing / Q000235:genetics*; D015992:Body Mass Index; D016022:Case-Control Studies; D015179:Colorectal Neoplasms / Q000201:enzymology / Q000235:genetics*; D019392:Cytochrome P-450 CYP2E1 / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D016254:Mutagenesis, Insertional / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
chemical_list: D019392:Cytochrome P-450 CYP2E1; D015252:Deoxyribonucleases, Type II Site-Specific; C040158:GTAC-specific type II deoxyribonucleases