A Common Allele on Chromosome 9 Associated With Coronary Heart Disease
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Coronary heart disease (CHD), the commonest cause of death worldwide, is highly heritable, but the DNA sequence variations associated with elevated cardiovascular risk are largely unknown. The investigators planned a genome-wide associational study based on 100,000 single nucleotide polymorphisms and involving 3 sequential case-control comparisons made at a nominal significance threshold of P < 0.025. The study population included more than 23,000 participants from 4 Caucasian populations. Cases had severe, premature CHD starting before age 60 years and leading to coronary artery revascularization. Controls were healthy Caucasian men over age 65 and women over age 70 who lacked symptoms and a history of CHD. Individuals with diabetes or hypercholesterolemia were excluded. A 58-kilobase interval on chromosome 9p21 was consistently associated with CHD. The interval is near the CDKN2A and CDKN2B genes. It contains no annotated genes and is not associated with established CHD risk factors such as diabetes, plasma lipoproteins, or hypertension. Between 20% and 25% of Caucasians are homozygous for the risk allele, and they have an approximately 30%–40% increased risk of CHD. Mechanisms for the association between the risk allele and CHD remain incompletely understood. The allele might promote the development of atherosclerotic plaque, augment thrombogenesis, or increase the tendency of plaques to rupture. The association persisted after controlling for numerous possible confounding factors including age, gender, plasma lipid levels, blood pressure, diabetes, and plasma levels of C-reactive protein. The researchers believe that the effect of the risk allele on chromosome 9 on CHD is not mediated by established risk factors for cardiovascular disease. The present findings support the use of the whole-genome association approach for studying conditions as complex as CHD.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.011 |
| 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) | 0.000 | 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 it