SNPMiner Trials by Shray Alag


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Report for SNP rs70991108

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 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

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.

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

2 Is Natural Folate as Effective as Synthetic Folic Acid in Increasing Serum and Red Blood Cell Folate Concentrations During Pregnancy? A Proof-of-concept Pilot Study

In this two-arm, double-blind randomized pilot study, the investigators will recruit 60 generally healthy, low-risk pregnant women aged 19-42 years living in Vancouver, Canada. Participants will be randomized to supplement with either 0.6 mg/day folic acid or an equimolar dose (0.625 mg/day) of (6S)-5-methyltetrahydrofolic acid for 16-weeks of their pregnancy. Randomization will occur at 8-21 weeks gestation (after neural tube closure) to reduce the risk of harm should the natural folate prove less effective. All participants will also receive a prenatal multivitamin not containing any form of folate, to ensure adequacy of other nutrients (e.g. iron) required during pregnancy. Three-hour fasting venous blood samples will be collected at baseline and endline to measure serum and red blood cell folate, unmetabolized folic acid and other related biomarkers. Women will be given the option to continue supplementing until 1-week postpartum, and provide a small (3mL) breastmilk sample in order to measure differences in folates in breastmilk. These pilot data will be used to inform a definitive trial regarding the most effective form of folate supplementation for mothers and their babies.

NCT04022135 Pregnancy Dietary Supplement: Folic acid Dietary Supplement: (6S)-5-methyltetrahydrofolic acid

Gene variant assessment of MTHFR (677 C>T, rs1801133, and 1298 A>C, rs1801131) and DHFR (rs1643649 and rs70991108) and differences in DNA methylation.

Primary Outcomes

Description: nmol/L; Reflects longer term status (e.g. previous 3-4 months)

Measure: Concentration of red blood cell folate levels

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: nmol/L; Reflects recent status or dietary intake

Measure: Concentration of serum folate levels

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: nmol/L; unmetabolized folic acid is not incorporated into RBCs, rather it circulates in plasma

Measure: Concentration of unmetabolized folic acid

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Secondary Outcomes

Description: pmol/mL; closely involved in folate metabolism and facilitating methionine cycles

Measure: Concentration of total vitamin B-12

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: nmol/L; closely involved in folate metabolism and facilitating methionine cycles

Measure: Concentration of pyridoxal-5'-phosphate

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µmol/L; closely involved in facilitating methionine cycles

Measure: Concentration of betaine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µmol/L; closely involved in facilitating methionine cycles

Measure: Concentration of choline

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µM; Metabolite produced in methionine cycles

Measure: Concentration of S-adenosyl-methionine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µM; Metabolite produced in methionine cycles

Measure: Concentration of S-adenosyl-homocysteine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µmol/L; Metabolite produced in methionine cycles

Measure: Concentration of total homocysteine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µmol/L; Metabolite produced in methionine cycles

Measure: Concentration of methionine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: µmol/L; Metabolite produced in methionine cycles

Measure: Concentration of cysteine

Time: concentrations at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation), and calculation of change between time periods

Description: Gene variant assessment of MTHFR (677 C>T, rs1801133, and 1298 A>C, rs1801131) and DHFR (rs1643649 and rs70991108) and differences in DNA methylation

Measure: Collection of peripheral blood mononuclear layer cells

Time: Collection at both baseline (8-21 weeks gestation) and endline (24-37 weeks gestation)

Description: nmol/L; folic acid that is unmetabolized and enters breastmilk as such

Measure: Concentration of unmetabolized folic acid in breastmilk

Time: Collection at 1 week postpartum

Description: nmol folate binding per liter of milk

Measure: Folate binding protein in breastmilk

Time: Collection at 1 week postpartum


HPO Nodes