A genetic variation in the gene for the protein dihydrofolate reductase (DHFR) that is necessary to utilize folic acid (a synthetic form of the B vitamin folate found in supplements and fortified food), increases the risk for breast cancer in multivitamin users and, when present in mothers who used folic acid supplements during pregnancy, increases the risk for cancer of the eye of their children. The aim of the proposed research is to understand how a common genetic variation in the gene for DHFR affects the function of this protein and the ability of the body to use folic acid.
Description: DHFR mRNA and protein abundance determined for the 19 bp deletion genotypesMeasure: DHFR mRNA and protein abundance Time: 1 year
Description: Effect of DHFR 19bp deletion on reactions of folate pathway determined in cell culture conditionsMeasure: Reactions of folate pathway Time: 1 year
Ecologic or Community
There is one SNP
Characterize rs70991108 Polymorphism of DHFR Gene A 19bp deletion polymorphism of intron 1 of dihydrofolate reductase (DHFR 19bpdel) increases the risk for breast cancer, and retinoblastoma of the offspring, in folic acid supplement users.