Genetic variants in the PKD1L2/BCO1 region are associated with β-carotene, lutein, and zeaxanthin: A genome-wide association study of plasma carotenoids
Bibliographic record
Abstract
• Plasma β-Carotene, Lutein, and Zeaxanthin concentrations were associated with PKD1L2/BCO1. • These genome-wide association study findings were not replicated in other ethnic groups. • Genetic variant-based nutrition recommendations may help optimize carotenoid intake. Carotenoid consumption has been associated with a reduced risk of several chronic diseases. Inter-individual genetic variation may explain some of the observed differences in plasma carotenoid concentrations between individuals. Identifying genetic variants associated with circulating carotenoids in young adults may help identify individuals at increased risk for developing conditions associated with low carotenoids later in life. We hypothesize that common genetic variants are associated with circulating carotenoid concentrations in a population of young adults. A genome-wide association study (GWAS) on plasma carotenoids (α-carotene, β-carotene, β-cryptoxanthin, lutein, and zeaxanthin) was conducted in Caucasians (n = 393) from the Toronto Nutrigenomics and Health Study. Replication cohorts included individuals of Caucasian (n = 193), East Asian (n = 436) and South Asian (n = 135) ethnicity. Linear regression adjusted for age, sex, BMI, total serum cholesterol, dietary carotenoid intake and population structure were used to identify associations between genetic variants and plasma carotenoids. Associations that met the threshold for genome-wide significance ( p < 5 × 10 -8 ) in unadjusted and partially adjusted models were not observed in the replication cohorts. No variants achieved genome-wide significance in fully adjusted models. Previously identified associations between variation in the PKD1L2/BCO1 region and β-carotene, lutein and zeaxanthin were replicated in the GWAS cohort ( p < .05). Established variation in the PKD1L2/BCO1 region is associated with plasma carotenoids. These variants may help to identify individuals who require greater amounts of these antioxidants and to provide precision nutrition recommendations for optimal intake of various carotenoids. A genome-wide association study investigating circulating plasma concentrations of common dietary carotenoids was conducted in a population of young adults. Genetic variation in the PKD1L2/BCO1 region was found to be associated with plasma concentrations of β-carotene, lutein, and zeaxanthin. Such variants may help to identify individuals who require greater amounts of these antioxidants and provide precision nutrition recommendations for optimal intake of various carotenoids.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".