P2‐023: Vitamin D receptor polymorphisms and Alzheimer disease
Bibliographic record
Abstract
Recent studies have suggested an association between low Vitamin D level and cognitive impairment. Some of the observed differences may be attributable to the affinity of vitamin D receptor for the Vitamin D3 ligand. We hypothesize that genetic polymorphisms in the Vitamin D receptor may influence our body response to Vitamin D, and may incur risk of AD. In the current study, we compared genotype frequencies in a cohort of AD patients with controls in a Canadian population. We examined 8 SNPs in the Vitamin D receptor, including Fok1, Taq1, Apa1, Bsm1, Cdx, Tru91, rs7968585, and rs7976091. There are 248 patients clinically diagnosed with probable AD enrolled through a dementia specialty clinic, and 78 subjects who are cognitively intact enrolled in a study to screen for Vitamin D deficiency. All subjects are Canadians of European descent. Genotyping was done by TaqMan assay (ABI3700). Association was tested by Chi Square followed by logistic regression to adjust for the effect of APOE, sex, age, and multiple comparisons. We also examined the correlation between these polymorphisms to total Vitamin D3 levels in our cohort. There are significant differences between the age of AD patients (mean 70.5) compared to the controls (57.0, p<0.001). In the initial screening phase, we found association between Taq1 (P=0.04) and Apa1 (P=0.015) with AD, but not with the other SNPs. After adjusting for effect of age, sex, and APOE genotype (e4 carriers vs non carriers), the effect of Taq1 disappears, but the effect of Apa1 remains, suggesting that the CC genotype is associated with an increased risk of AD. Interestingly, there is no significant association between this polymorphism and serum Vitamin D3 level. Our findings suggest that the Vitamin D receptor polymorphism Apa1 is associated with increased risk of AD. However, there is no association between this polymorphism to total serum Vitamin D3 levels. Further analyses in a larger scale study is warranted to elucidate the role of Vitamin D and its receptor polymorphisms as a risk for AD.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.001 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.013 | 0.001 |
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 source (direct Gemma or distilled Codex), 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".