Support for tryptophan hydroxylase-2 as a susceptibility gene for bipolar affective disorder
Bibliographic record
Abstract
Bipolar affective disorder (BPAD) is a highly inherited genetic disorder and may be caused in part by deficits in serotonergic neurotransmission. We investigated whether variants within the tryptophan hydroxylase-2 (TPH2) gene, which is required for the synthesis of serotonin (5-HT), are associated with susceptibility to developing BPAD. Thirteen single nucleotide polymorphisms (SNPs) within TPH2 were genotyped in a collection of 151 Irish BPAD type I trios and were tested for association using the transmission disequilibrium test. SNPs rs1386482 and rs1386486, which are in very strong linkage disequilibrium, were associated with BPAD (P=0.006). The association retained significance after a correction for multiple testing. The associated SNPs are in perfect linkage disequilibrium with SNPs previously associated with BPAD (rs4290270) and impulsivity (rs1386483), a core trait of BPAD. These results strongly support a role for TPH2 in the aetiology of BPAD.
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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 | 0.001 | 0.006 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.006 | 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 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".