Article

Candidate pathway polymorphisms in one-carbon metabolism and risk of rectal tumor mutations.

International Journal of Molecular Epidemiology and Genetics 01/2011; 2(1):1-8. pp.1-8
Source: PubMed

ABSTRACT We examined candidate polymorphisms in genes involved in the folate-mediated, one-carbon metabolism pathway, DNMT1 1311V, MTHFD1 R134K and R653Q, MTHFR R594Q, MTR D919G, MTRR H595Y and I22M, SHMT1 L474F, SLC19A1 H27R, and TDG G199S, and associations with rectal tumor characteristics. We hypothesized that these candidate genes would influence CpG Island Methylator Phenotype and potentially KRAS2 or TP53 tumors. Data from a population-based study of 747 rectal cases (593 with tumor markers) and 956 controls were evaluated using generalized estimating equations. We observed an increased risk of TP53 tumor mutations in homozygous carriers of the MTHFD1 134K allele (0R=2.0, 95%CI 1.2-3.1, P- trend=0.02). In the presence of low folate intake, the R134K variant was associated with increased risk of CIMP+ tumors (OR=2.8, 95%CI 1.04-7.7). The MTRR I22M variant genotype was associated with a modest increased risk of TP53 mutations (OR=1.7, 95%CI 1.2-2.5, P-trend=0.001). Our findings offer limited support that polymorphisms in one-carbon metabolism genes influence rectal tumor phenotype, and that folate may interact with MTHFD1 to alter CIMP+ risk.

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Keywords

747 rectal cases
 
candidate genes
 
candidate polymorphisms
 
CIMP+ risk
 
CIMP+ tumors
 
findings offer limited support
 
folate
 
folate-mediated
 
genes
 
low folate intake
 
MTHFD1
 
MTHFD1 134K allele
 
MTRR I22M variant genotype
 
one-carbon metabolism genes influence rectal tumor phenotype
 
one-carbon metabolism pathway
 
polymorphisms
 
population-based study
 
R134K variant
 
rectal tumor characteristics
 
TP53 tumors