Is the Heat Labile Variant of Methylene Tetrahydrofolate Reductase (MTHFR-HL) Associated with Elevated Plasma Total Homocysteine (tHcy) and Premature Coronary Artery Disease (CAD)?
Bibliographic record
Abstract
P18 Patients with premature CAD (onset ≤55 in males, ≤65 in females) generally have higher tHcy while MTHFR-HL has been inconsistently associated with CAD. To address this issue we determined MTHFR genotype (HL vs wild type = WT), and measured tHcy, plasma folate, vitamins B12 and B6, and standard risk factors in 224 (74% male, mean age 56.0 ± 6.0) patients with premature, familial CAD (cases) and in 146 controls (56% male, mean age 48.7 ± 6.5). As expected, tHcy was significantly higher in cases (p < 0.0001) and in subjects with low folate (<16 nmol/L, p <0.0001). Furthermore, there was a significant interaction between case status, MTHFR-HL homozygosity (HL/HL), and low folate as shown in the figure (shown are least-square means ± 95% CI; p = 0.0072 for interaction term; “other” refers to WT/WT and WT/HL genotypes). However, the frequency of MTHFR-HL homozygosity was not different in cases (10.71%) versus controls (10.96%), nor was there an excess of risk associated with having both HL/HL and low folate though numbers were small (4.9% of cases versus 4.1% of controls). Thus, the MTHFR-HL variant may contribute to high tHcy in premature CAD cases with low folate status, but a direct effect of MTHFR-HL on CAD risk appears to be unlikely, at least in populations with sufficient folate intake. Figure 1.
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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 | 0.001 | 0.002 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".