From Family to Pharmacogenetics
Bibliographic record
Abstract
Hypertension is a complex disease in which environment and heredity interact. It is a polygenic trait that can be studied by investigating its intermediate phenotypes. We have selected the population from the Saguenay-Lac St. Jean region because it is a relative genetic isolate. We have found that the prevalence of hypertension at every age level was greater than in a control Canadian population. A sib pair analysis was used to measure familial correlation and heritability of more than 200 phenotypes among which were renal functions, anthropometric measures and cardiac morphology and reactivity. Very strong familial correlations were estimated for several cardiovascular phenotypes. During a pharmacological infusion of norepinephrine, we observed that systolic blood pressure was increased as expected but that the heritable component of this phenotype increased from null at baseline to close to 70%. Preliminary total genome scans completed on the DNA of the participants have selected several regions linked to these phenotypes. This type of study opens the door to pharmacogenetic studies in which sib pairs are analyzed for their concordant or discordant response to a medication.
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.
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 | 0.002 | 0.007 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.002 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.012 | 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".