COMT

Catechol-O-Methyltransferase

About COMT

COMT is an important enzyme for the metabolism of various catecholamines (neurohormones responsible for the fight-or-flight response of the body) such as dopamine, epinephrine, and norepinephrine. Variations in COMT can cause hypothalamic-pituitary-adrenal (HPA) axis dysfunction and elevated levels of cortisol, which can affect the body’s ability to handle stress.

Homozygous
2 risk variants present

About your result

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

Disclaimer: This test does not include all possible risk variants for the COMT 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 COMT 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 COMT risk variant(s) have been reported to experience strong emotions towards stress and may be less able to handle negative events well.

The COMT risk variant(s) may contribute to higher dopamine levels than those without the risk variants. Some studies have shown that higher dopamine levels may negatively impact prefrontal neural signaling.

The COMT risk variant(s) has also been associated with an alteration in estrogen metabolism. Some studies have shown that certain alterations in estrogen metabolism may lead to an increased risk of infertility.

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

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Calculating Your COMT Analysis

Twenty to thirty percent of Caucasians are affected by the Met/Met variation (having two copies of the risk variants), which is said to be 3x to 4x slower in removing catecholamines. This can lead to chronic and prolonged stress, which can disrupt the body’s ability to maintain homeostasis.

No risk variants present
1 risk variant present
2 risk variants present
Gene
COMT
COMT
COMT
Variation
V158M
H62H
P199P / 61
SNP
rs4680
rs4633
rs769224
Genotype
GA
CT
GG
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.