| Geno
|
Mag
|
Summary
|
| (G;G)
|
|
higher beta-carotene levels
|
| (G;T)
|
|
higher beta-carotene levels
|
| (T;T)
|
|
normal
|
| ? | (G;G) (G;T) (T;T) | 28 |
|---|
 |
[
PMID 19185284]
rs6564851(G) associated with higher beta-carotene (p = 1.6 x 10(-24)) and alpha-carotene (p = 0.0001) levels and lower lycopene (0.003), zeaxanthin (p = 1.3 x 10(-5)), and lutein (p = 7.3 x 10(-15)) levels, with effect sizes ranging from 0.10-0.28 SDs per allele.
Note that low plasma levels of carotenoids and tocopherols are associated with increased risk of chronic disease and disability, yet dietary intake of these lipid-soluble antioxidant vitamins is only poorly correlated with plasma levels, leading to the hypothesis that it isn't what you eat, it's your SNPs that regulate your carotenoid levels.[PMID 19185284]
| OMIM | 115300 |
| Desc | HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT |
| Variant | |
| Related | also |
[PMID 19662379] Circulating beta-carotene levels and type 2 diabetes-cause or effect?
[PMID 20616999] Usefulness of Mendelian randomization in observational epidemiology.
[PMID 22113863] Single nucleotide polymorphisms upstream from the beta-carotene 15,15'-monoxygenase gene influence provitamin A conversion efficiency in female volunteers.
| GET Evidence
|
| rs6564851
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pathogenic
|
| qualified_impact
|
Insufficiently evaluated pathogenic
|
| overall_frequency
|
0.453125
|
| summary
|
|
