Genetic Variation\nin 9p21 and the Plasma Proteome
Bibliographic record
Abstract
Single nucleotide polymorphisms (SNPs)\nin the noncoding region\nof 9p21 have been associated with cardiovascular disease (CVD), but\nthe mechanisms by which these genetic variants contribute to the pathogenesis\nof CVD remain unknown since no annotated proteins are present in this\nregion of DNA. The objective of the current study was to determine\nif 9p21 genotypes are associated with distinct plasma proteins in\nyoung adults. Subjects were 1611 young adults aged 20–29 years\nfrom the Toronto Nutrigenomics and Health Study (1098 females and\n513 males). DNA was isolated from fasting blood to analyze four SNPs\nin 9p21 (rs2383206, rs10757274, rs10757278, and rs1333049). Abundant\nplasma proteins (<i>n</i> = 54) were measured using liquid\nchromatography multiple reaction monitoring mass spectrometry. Analysis\nof covariance was used to determine differences in plasma proteins\nbetween genotypes. In Caucasians (<i>n</i> = 524), four\nSNPs were associated with apolipoprotein E and two with haptoglobin-β-chain\nconcentration. In East Asians (<i>n</i> = 388), three SNPs\nwere associated with α-1b-Glycoprotein, two with apolipoprotein\nB-100, one with apolipoprotein E and one with haptoglobin-β-chain\nconcentration. In South Asians (<i>n</i> = 117), one SNP\nwas associated with apolipoprotein B-100 concentration. Our findings\nsuggest that 9p21 genotypes may play a role in various pathophysiological\npathways that contribute to risk of CVD in early adulthood that might\nbe distinct among different ethnocultural groups.
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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 | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.046 | 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; both teacher heads agree on what is shown here.
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".