MTHFR

Methylenetetrahydrofolate Reductase

About MTHFR

The MTHFR gene is responsible for providing instructions for making methylenetetrahydrofolate reductase enzyme, which helps the body process folate (Vitamin B9). Folate is needed for healthy red blood cell formation and is crucial during pregnancy for fetal development. MTHFR is involved in the process of converting homocysteine to methionine that the body can use for building proteins. MTHFR gene variants can cause elevated homocysteine levels. Homocysteine has been observed in studies to be toxic to cells and potentially be an indicator for cardiovascular problems when levels are elevated.

Homozygous
2 risk variants present

About your result

Based on your genetic profile, you may have reduced MTHFR enzyme activity.
Result based on: DNA

Disclaimer: This test does not include all possible risk variants for the MTHFR gene. Please talk to a healthcare professional if you think you might have symptoms associated with these variants, or you have any concerns about your results. You may wish to speak with a genetic counselor, board-certified clinical molecular geneticist, or equivalent health care professional about the results of your test. You can find information about doing so here: https://findageneticcounselor.nsgc.org/?reload=timezone The presence of these risk variants may not directly affect your day-to-day life. Some effects are too minuscule to notice and may not significantly impact your quality of life.

Individuals with MTHFR risk variant(s) may exhibit a decrease in normal enzyme activity. The enzyme activity could further decrease with the more risk variants carried.

People with risk variant(s) in this gene may have elevated levels of homocysteine in blood plasma compared to those without the risk variant. Increased homocysteine levels have been observed in studies to be toxic to cells and potentially be an indicator for cardiovascular problems.

People with MTHFR risk variants have been reported to be more susceptible to altered levels of DNA methylation compared to those without the risk variants.

Women who are pregnant or planning to become pregnant should speak to their physician or other healthcare provider about their MTHFR results, as processing folate properly is important for fetal development.

Interestingly, those with the risk variants may have a better working memory than those without the risk variants.

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Calculating Your MTHFR Analysis

The most common variant of MTHFR is MTHFR C677T which affects up to 20% to 40% of the Caucasian and Hispanic population in the United States.

No risk variants present
1 risk variant present
2 risk variants present
Gene
MTHFR
MTHFR
MTHFR
Variation
C677T
A1298C
03/P39P
SNP
rs1801133
rs1801131
rs2066470
Genotype
GG
GT
AG
References

Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Studyhttps://doi.org/10.1161/circgenetics.108.829804

Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease, van Meurs et al., 2013. https://doi.org/10.3945/ajcn.112.044545

Exome-Wide Association Study Identifies East Asian-Specific Missense Variant MTHFR C136T Influencing Homocysteine Levels in Chinese Populations RH: ExWAS of tHCY in a Chinese Populationhttps://doi.org/10.3389/fgene.2021.717621

GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer, Christakoudi et al., 2021. https://doi.org/10.1038/s41598-021-89176-6

Molecular Biology of Methylenetetrahydrofolate Reductase (MTHFR) and Overview of Mutations/Polymorphisms, Leclerc et al., 2000-13. https://www.ncbi.nlm.nih.gov/books/NBK6561/

5,10-Methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGE review, Botto et al., 2000. https://doi.org/10.1093/oxfordjournals.aje.a010290

Methylenetetrahydrofolate reductase and psychiatric diseases, Wan et al., 2018. https://doi.org/10.1038/s41398-018-0276-6

Association of the Maternal MTHFR C677T Polymorphism with Susceptibility to Neural Tube Defects in Offsprings: Evidence from 25 Case-Control Studies, Yan et al., 2012. https://doi.org/10.1371/journal.pone.0041689

MTHFR 677C-->T polymorphism and risk of coronary heart disease: a meta-analysis, Klerk et al., 2002. https://doi.org/10.1001/jama.288.16.2023

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase, Frosst et al., 1995. https://doi.org/10.1038/ng0595-111

Disclaimer: Our reports and suggestions do not diagnose or treat any health conditions or provide any medical advice. Consult with a healthcare professional before making any major lifestyle changes or if you have any other concerns about your results.