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Many individuals carry MTHFR mutations without being aware of their MTHFR status, while only a small fraction benefit from knowing their specific MTHFR gene variants. If you're unfamiliar with MTHFR or seek further understanding, we encourage you to read our introductory guide on the subject. Certain MTHFR mutations, such as MTHFR C667T or MTHFR A129C, are associated with various health and fertility issues. This topic report will delve into how MTHFR mutations detrimentally affect the methylation pathway and vitamin B12 levels, and provide guidance on improving health outcomes when living with an MTHFR mutation. Are you perplexed about MTHFR, B12, and how a genetic mutation might impact your health?
Surprisingly, over 40% of people worldwide harbor some variation of the MTHFR genetic mutation, yet many remain unaware of it.
MTHFR, or methylenetetrahydrofolate reductase, is an enzyme produced by the MTHFR gene, essential for metabolizing folate and breaking down the amino acid homocysteine. Vitamin B12 also plays a crucial role as a cofactor in folate methylation and homocysteine conversion to methionine.
However, mutations in the MTHFR gene can significantly hinder the body's ability to convert vitamin B12 and folate into usable forms, potentially leading to low B12 levels, with serious implications for health and well-being.
Understanding MTHFR, B12 (vitamin B), and B12 deficiency is crucial for informed health management.
Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Vitamin B12 and see a list of existing studies.
SNP polymorphisms related to the topic Vitamin B12:
| rs162036 | Disorders of intracellular metabolism of cobalamin. Positive effect on the efficacy of folic acid therapy in patients with hyperhomocysteinaemia. |
| rs326124 | |
| rs492602 | B12 levels are 1.5 times higher in women. |
| rs526934 | Causes decreased concentrations of vitamin B6, vitamin B12, folic acid and increased homocysteine in the blood. |
| rs557564 | |
| rs601338 | FUT2 gene fragment affects serum vitamin B12 concentration via hologaptocorrin. Presumably reduces the amount of vitamin B12 absorption from food and tablets. Administration of B12 in the form of injections is recommended. |
| rs602662 | The polymorphism is associated with reduced levels of vitamin B12 in the blood, this effect may be due to reduced absorption of vitamin B12, such people need additional vitamin B12 supplementation in the form of injections. |
| rs703062 | |
| rs708686 | |
| rs1532268 | |
| rs1801133 | A gene fragment known as MTHFR C677T, which encodes an enzyme involved in folic acid metabolism. A break in this gene fragment results in high levels of homocysteine, low levels of B12 and folic acid. If your tests show high homocysteine levels, your doctor will likely advise you on an appropriate diet and supplementation regime. Taking varieties of the active form of B9 methylfolate (5-MTHF or L-methyltetrahydrofolate), the active form of vitamin B12, methylcobalamin, is recommended to reduce your risks. |
| rs1801239 | Hereditary malabsorption of cobalamin. The gene encodes a vitamin B12 receptor factor, cubilin, and causes hereditary megaloblastic anaemia. |
| rs1801394 | Polymorphism can lead to elevated homocysteine levels independent of folic acid, vitamin B12 or B6 levels. It is a risk factor for neural tube defects and Down syndrome in the setting of higher homocysteine levels. |
| rs1805087 | Moderate risk factor for hyperhomocysteinaemia. A factor that increases the body's need for folic acid and vitamin B12. |
| rs2283873 | |
| rs2287780 | Polymorphism in folic acid pathway genes causing B12 deficiency and increased homocysteine. |
| rs3760776 | Associated with serum vitamin B12 levels in men |
| rs5749135 | |
| rs7703033 | Causes decreased concentrations of vitamin B6, vitamin B12, folic acid and increased homocysteine in the blood. |
| rs9606756 | Polymorphism associated with serum levels of vitamin B12. Also associated with transcobalamin concentrations in pregnant women and risk of neural tube defects in the foetus. |
| rs10064631 | Methionine synthase deficiency, impairing the metabolism of folic acid B9 and cobalamin B12. |
| rs10925257 | A marker of vitamin B12 deficiency and frailty in older women. |
| rs10925263 | Disorders of intracellular metabolism of cobalamin. |
| rs11254363 | Causes decreased concentrations of vitamin B6, vitamin B12, folic acid and increased homocysteine in the blood. |
| rs16982241 | FUT2 gene fragment affects serum vitamin B12 concentration via hologaptocorrin. Presumably reduces the amount of vitamin B12 absorption from food and tablets. Administration of B12 in the form of injections is recommended. |
| rs34324219 | Transcobalamin deficiency. |
| rs117699377 | |