The Beta Carotene Oxygenase 1 (BCMO1) gene is associated with the synthesis of beta carotene oxygenase 1, an enzyme that converts precursor vitamin A into active retinol. People with certain variants of the gene are associated with nearly 60% reduction in enzyme activity.
The active form of vitamin A is required by the photoreceptors of the eye, stem cells, immune cells, red blood cells and embryonic cells. Vitamin A deficiency is shown to be associated with night blindness, or in severe cases complete blindness and an increase in the severity of infections. It is found to be associated with innate and active immune responses as well as in certain skin conditions like acne.
There are two SNPs associated with vitamin A levels- rs12934922 and rs750133.
Does your 23andme, Ancestry DNA, FTDNA raw data have BCMO1 gene variant information?
| CHIP Version | BCMO1 SNPs |
| 23andMe (Use your 23andme raw data to know your BCMO1 Variant) | |
| v1 23andme | Present |
| v2 23andme | Present |
| v3 23andme | Present |
| v4 23andme | Present |
| V5 23andme (current chip) | Present |
| AncestryDNA (Use your ancestry DNA raw data to know your BCMO1 Variant) | |
| v1 ancestry DNA | Present |
| V2 ancestry DNA (current chip) | Present |
| Family Tree DNA (Use your FTDNA raw data to know your BCMO1 Variant) | |
| OmniExpress microarray chip | Present |
Association with Vitamin A Needs:
In a study conducted to identify the variability in vitamin A levels, people with the T variant of rs12934922 and rs750133 had a reduced catalytic activity by 57%. These individuals were found to convert beta carotene 69% less efficiently than people without this variant.
| Genotype rs12934922 | Phenotype | Recommendations |
| TT | [Limitation] More likely to have lower plasma retinol levels | Reduced level of plasma retinol levels. A plasma retinol level of lower than 0.70 micromoles/L indicates vitamin A deficiency Consume a diet rich in vitamin A Foods rich in vitamin A include beef liver, spinach, kale, carrots, broccoli and sweet potato. Choosing animal sources of vitamin A would provide the active form of the vitamin. |
| AT | Moderate plasma retinol levels | Reduced level of plasma retinol levels. A plasma retinol level of lower than 0.70 micromoles/L indicates vitamin A deficiency Consume a diet rich in vitamin A Foods rich in vitamin A include beef liver, spinach, kale, carrots, broccoli and sweet potato. Choosing animal sources of vitamin A would provide the active form of the vitamin. |
| AA | [Advantage] More likely to have higher plasma retinol levels | Consume sufficient amount of vitamin A rich foods in the diet The recommended daily intake is 1mcg of retinol or 12 mcg of beta carotene (precursor to the active form from plant sources) |
| Genotype rs750133 | Phenotype | Recommendations |
| TT | [Limitation] More likely to have lower plasma retinol levels | Reduced level of plasma retinol levels. A plasma retinol level of lower than 0.70 micromoles/L indicates vitamin A deficiency Consume a diet rich in vitamin A Foods rich in vitamin A include beef liver, spinach, kale, carrots, broccoli and sweet potato. Choosing animal sources of vitamin A would provide the active form of the vitamin. |
| CT | Moderate plasma retinol levels | Reduced level of plasma retinol levels. A plasma retinol level of lower than 0.70 micromoles/L indicates vitamin A deficiency Consume a diet rich in vitamin A Foods rich in vitamin A include beef liver, spinach, kale, carrots, broccoli and sweet potato. Choosing animal sources of vitamin A would provide the active form of the vitamin. |
| CC | [Advantage] More likely to have higher plasma retinol levels | Consume sufficient amount of vitamin A rich foods in the diet The recommended daily intake is 1mcg of retinol or 12 mcg of beta carotene (precursor to the active form from plant sources) |
References:
- https://www.ncbi.nlm.nih.gov/pubmed/19103647
- https://ods.od.nih.gov/factsheets/VitaminA-HealthProfessional/
“Nutrigenetics, fitness genetics, health genetics are all nascent but rapidly growing areas within human genetics. The information provided herein is based on preliminary scientific studies and it is to be read and understood in that context.”
Vitamin A and Genetics
