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Choline mthfr

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Choline (vitaman B4) is a vital nutrient often lacking in many diets. Indeed, a large portion of the population fails to meet their daily choline requirements. Inadequate choline intake can affect cognitive function, heart health, susceptibility to fatty liver disease, and other health aspects. What's the importance of choline?

Choline plays integral roles in various bodily functions, including:

Facilitating methylation reactions by providing methyl groups.

Forming acetylcholine, a neurotransmitter and essential cell-signaling molecule.

Contributing to the formation of phosphatidylcholine, a major component of cell membranes.

Supporting muscle function.

Choline deficiency is linked to non-alcoholic fatty liver disease (NAFLD).

The significance of choline as a crucial nutrient is well acknowledged, yet our comprehension of the interplay between our genetic makeup and dietary choline needs is still in its infancy. Research, encompassing both human and animal studies, has revealed that choline deficiencies contribute to ailments such as non-alcoholic fatty liver disease and various neurodegenerative conditions. Ensuring an ample dietary choline supply is crucial for optimal development, particularly underscored by heightened maternal requirements during fetal development and for breastfed infants. We delve into recent research exploring variants in PEMT and MTHFR1 genes linked to various birth defects. Furthermore, in addition to genetic influences, we examine recent findings unveiling alterations in fetal global methylation patterns in response to maternal choline intake, leading to gene expression changes in offspring. Contrary to the developmental significance of adequate choline, there is now recognition of its role in cardiovascular disease via the gut microbiota-mediated metabolite trimethylamine N-oxide pathway. This pathway elucidates some of our comprehension of how the microbiome influences nutrient processing and bioavailability. Lastly, in efforts to better understand the genetic framework governing choline requirements, we discuss recent findings focused on identifying polymorphisms that regulate choline and its derivative products.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin B4 (choline) and see a list of existing studies.

SNP polymorphisms related to the topic Vitamin B4 (choline):

rs1051266The protein encoded by the gene transports folic acid into the cell and thus plays a role in the intracellular regulation of folate concentration. In this genotype, folate absorption is worse. Folic acid requirement is higher. Alcohol consumption is more critical for the risk of vitamin B9 deficiency.
rs2236225Possible increased risk of fetal birth defects. A 1.5-fold higher risk for Caucasian mothers to give birth to children with DNT (neural tube defect). The association in children with this mutation with an increased risk of heart defects is greater if their mother did not get enough folic acid during pregnancy. The risk is reduced with adequate levels of folic acid and vitamin B6.
rs174548Polymorphisms in this gene are associated with decreased levels of omega-3 fatty acids, increased relative levels of omega-6 fatty acids and increased concentrations of trans-unsaturated fatty acids. In vegetarians, some polymorphisms of this gene may result in an undesirable situation associated with increased inflammation.
rs1880676Genetic variability in the choline-O-acetyltransferase gene influences increased risk of depression and Alzheimer's disease.
rs7946Genetic polymorphisms in methyl group metabolism DNA methylation in peripheral blood. Affect the human need for choline (vitamin B4).
rs2289205Choline pathway gene polymorphism increases the risk of intrauterine foetal death.