Genetic variation and lithium response in bipolar disorder
Bibliographic record
Abstract
The importance of genes in the etiology of bipolar disorder (BD) has been substantiated through family, twin and adoption studies. The search for susceptibility genes, however, has proved to be an arduous task with disease complexity leading to the non-replication of published results. We have used lithium treatment response as a classification variable, thus providing a phenotypically more homogeneous sample to work with. With this sample we carried out pharmacogenetic studies to identify genes involved in the etiology of BD and/or in the response to Li. The phosphoinositide and cAMP pathway have been shown to be involved in Li's mode of action. Thus, a gene responsible for regulating inositol metabolism (prolyl endopeptidase, PREP) and three cAMP responsive element binding proteins (CREB1-3) were investigated. We have found an association indicating a possible role of CREB1 and 2 in the etiology of BD and Li response. Further studies in larger, independent samples and the analysis of additional markers should be undertaken to confirm these findings.
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| 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) | 0.016 | 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".