title: [677T mutation of the MTHFR gene in adenomas and colorectal cancer in a population sample from the Northeastern Mexico. Preliminary results].
abstract: BACKGROUND
  Adequate intake of folates has been associated to low prevalence of colon cancer. Methylenetetrahydrofolate reductase enzyme (MTHFR) plays an important role in folate metabolism. The role of the 677 mutation at the MTHFR gene in the risk for colorectal cancer remains controversial. A recent report established that this mutation has a high prevalence in the healthy Mexican population.
  
  
  OBJECTIVE
  To analyze the prevalence of 677T MTHFR mutation in patients with colorectal cancer and controls without chronic gastrointestinal disorders.
  
  
  METHODS
  Seventy-four colorectal cancer, 32 adenomas and 110 normal samples were analyzed. Patients and controls were matched for sex and age. For each sample, DNA isolation, PCR, and mutation detection by restriction enzyme digestion were performed to determine the allele at the 677 position in the MTHFR gene.
  
  
  RESULTS
  Genotype 677C/677C was found in 18.7, 20.3, and 30.9% in adenomas, cancer lesions and controls, respectively. Frequencies of the 677C/677T genotype were 59.4, 56.7, and 47.3%, in adenomas, cancer lesions, and controls, respectively. Genotype 677T/677T was found in 21.9, 23.0, and 21.8% in adenomas, cancer lesions, and controls, respectively. The odds ratio between genotypes carrying the mutation (T/T and C/T) and normal genotype (CC) was 1.81 (IC 95% 0.97-3.3), chi 2 = 3.5, p = 0.06.
  
  
  CONCLUSIONS
  Our results showed that persons who carry the 677T mutation at MTHFR locus have a tendency for an increased risk for colorectal cancer. This study supports the basic concept that low levels of folic acid contribute with the colorectal cancer pathogenesis. Our lack of statistic significance may be due to reduced sample size.
authors.affiliation: Laboratorio de Genética Molecular de la ULIEG, Departamento de Bioquímica, Facultad de Medicina de la UANL, Monterrey, N.L. México.
authors.forename: I
authors.initials: I
authors.lastname: Delgado-Enciso
authors.forename: S G
authors.initials: SG
authors.lastname: Martínez-Garza
authors.forename: A
authors.initials: A
authors.lastname: Rojas-Martínez
authors.forename: R
authors.initials: R
authors.lastname: Ortiz-López
authors.forename: F
authors.initials: F
authors.lastname: Bosques-Padilla
authors.forename: A L
authors.initials: AL
authors.lastname: Calderón-Garcidueñas
authors.forename: M
authors.initials: M
authors.lastname: Zárate-Gómez
authors.forename: H A
authors.initials: HA
authors.lastname: Barrera-Saldaña
mesh_terms: D000236:Adenoma / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002648:Child; D015179:Colorectal Neoplasms / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D008800:Mexico; D008875:Middle Aged; D009154:Mutation; D000587:Oxidoreductases Acting on CH-NH Group Donors / Q000235:genetics*
chemical_list: D000587:Oxidoreductases Acting on CH-NH Group Donors; D042965:Methylenetetrahydrofolate Reductase (NADPH2)