SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for Clinical Trial NCT03319979

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

DHFR 19 bp Deletion Polymorphism and Folic Acid Utilization

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.

NCT03319979 Characterize rs70991108 Polymorphism of DHFR Gene


Primary Outcomes

Description: DHFR mRNA and protein abundance determined for the 19 bp deletion genotypes

Measure: DHFR mRNA and protein abundance

Time: 1 year

Secondary Outcomes

Description: Effect of DHFR 19bp deletion on reactions of folate pathway determined in cell culture conditions

Measure: Reactions of folate pathway

Time: 1 year

Time Perspective: Cross-Sectional

Ecologic or Community


There is one SNP

SNPs


1 rs70991108

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.



HPO Nodes