Shared Genetic Risk Factors Across Carbamazepine‐Induced Hypersensitivity Reactions
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
Carbamazepine ( CBZ ) causes life‐threating T‐cell‐mediated hypersensitivity reactions, including serious cutaneous adverse reactions ( SCAR s) and drug‐induced liver injury ( CBZ ‐ DILI ). In order to evaluate shared or phenotype‐specific genetic predisposing factors for CBZ hypersensitivity reactions, we performed a meta‐analysis of two genomewide association studies ( GWAS ) on a total of 43 well‐phenotyped Northern and Southern European CBZ ‐ SCAR cases and 10,701 population controls and a GWAS on 12 CBZ ‐ DILI cases and 8,438 ethnically matched population controls. HLA ‐A*31:01 was identified as the strongest genetic predisposing factor for both CBZ ‐ SCAR (odds ratio ( OR ) = 8.0; 95% CI 4.10–15.80; P = 1.2 × 10 −9 ) and CBZ ‐ DILI ( OR = 7.3; 95% CI 2.47–23.67; P = 0.0004) in European populations. The association with HLA ‐A*31:01 in patients with SCAR was mainly driven by hypersensitivity syndrome ( OR = 12.9; P = 2.1 × 10 −9 ) rather than by Stevens‐Johnson syndrome/toxic epidermal necrolysis cases, which showed an association with HLA ‐B*57:01 . We also identified a novel risk locus mapping to ALK only for CBZ ‐ SCAR cases, which needs replication in additional cohorts and functional evaluation.
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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 | 0.000 |
| Meta-epidemiology (narrow) | 0.001 | 0.001 |
| Meta-epidemiology (broad) | 0.005 | 0.003 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.002 | 0.006 |
| Insufficient payload (model declined to judge) | 0.000 | 0.002 |
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