BCMO1 R267S and A379V (Vitamin A)

The SNP Peek series brings you concise, up-to-date information on genetic variations known as Single Nucleotide Polymorphisms (SNPs), which affect a significant percentage of patients. The SNPs featured in this series are clinically relevant, nutritionally actionable and validated by published research. Featuring one SNP at a time, the series will educate you about prevalence, important research findings, targeted nutritional supplements and monitoring.* To apply this information in practice quickly and easily, visit PureGenomics.com.
Who is Affected?

Data from small population samples suggest these SNPs affect over 60% of American Caucasians of northern European ancestry and at least 20% of Asians.3 Prevalence in other ethnic groups remains unknown.


Clinical Relevance:

Vitamin A is critical to long-term health, but deficiency is common and often overlooked. For example, evidence suggests that nearly 50% of American postmenopausal women have overt or marginal vitamin A deficiencies.4*
Immune function. Vitamin A maintains natural killer cell concentrations, T-lymphocyte function and healthy antibody responses.*
Night vision. Vitamin A is a component of light receptors in the retina that enable vision in low light.*
Macular health. BCMO1 SNPs may affect macular pigment density.


The Research:

In a study of female volunteers, the A379V (rs7501331) SNP was associated with a 32% reduction in the ability to make vitamin A from dietary beta-carotene.2
Subjects who carried both the A379V and R267S (rs12934922) SNPs exhibited a 69% reduction in conversion efficiency.2
Pure Encapsulations® Products

Preformed vitamin A, or retinol, is a simple solution, as it bypasses BCMO1 to ensure nutritional adequacy. Vitamin A + Carotenoids provides 5,000 IU pre-formed vitamin A (retinol), in addition to lutein, zeaxanthin and astaxanthin for added macular support.*

Suggested Monitoring:

Serum retinol may be useful if vitamin A deficiency is suspected; however, it may not detect mild deficiencies.1 Elevated serum beta-carotene levels are common in patients with BCMO1 variants.2 This is not harmful, and is mitigated by avoiding high-dose beta-carotene supplementation and including retinol as part of the total vitamin A intake.2

About PureGenomics®

PureGenomics® combines a platform of educational tools and core products with our dynamic, practitioner-exclusive website application designed to identify common genetic variations known as Single Nucleotide Polymorphisms (SNPs) that are clinically relevant and nutritionally actionable. This unique platform makes it easy to TEST, TRANSLATE and TARGET SNPs with the right nutritional support, empowering practitioners with precision and confidence in the pursuit of optimal health for every patient.*

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