SNPMiner Trials by Shray Alag


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Report for SNP rs1801131

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 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

2 A Retrospective Cohort Study: The Influence of MTHFR C677T and A1298C on the High-dose Methotrexate-Related Toxicities in Pediatric Patients With Non-Hodgkin Lymphoma

We hypothesized that polymorphism MTHFR C677T and A1298C should be associated with HD-MTX-related toxicities in children with NHL. Therefore, we aimed to retrospectively explore their relationships in this analysis.

NCT04283955 Pediatric NHL Drug: High-dose MTX based chemotherapy
MeSH:Lymphoma, Non-Hodgkin
HPO:Non-Hodgkin lymphoma

The most two extensively studied SNPs of MTHFR in relation to the toxicities of MTX are the C677T variant (Ala222Val, rs1801133) and A1298C variant (Glu 429Ala, rs1801131), both dampening the enzyme activity by 40-70%.

Primary Outcomes

Description: We recorded the toxicities that occurred to the patients after the MTX infusion, including hematological suppression, hepatotoxicity, nephrotoxicity, oral mucositis, vomiting and diarrhea.

Measure: Observations of HD-MTX-related toxicities

Time: 3 weeks


HPO Nodes