Allelic expression imbalance of the schizophrenia susceptibility gene CHI3L1
Why this work is in the frame
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Bibliographic record
Abstract
OBJECTIVE: To identify cis-acting regulatory variants influencing the expression of the schizophrenia susceptibility gene chitinase 3-like 1 gene (CHI3L1) in human lymphoblasts and post-mortem brain tissue. METHODS: To investigate the role of cis-acting regulatory variants in controlling gene expression of CHI3L1 we quantified relative allelic abundance in individuals heterozygous for the transcribed polymorphism rs880633. Allelic quantification was performed using RNA derived from 45 individuals from the HapMap CEU panel and 41 postmortem brain samples. Association of allelic imbalance with genetic variants was determined at a gene-wide level for the HapMap samples using available genotyping data. RESULTS: Expression of the CHI3L1 transcript is under the control of potently acting cis-variation in lymphoblasts. Polymorphisms in the promoter region of CHI3L1 were significantly associated with this allelic imbalance. In the single postmortem brain tissue investigated, only moderate allelic imbalance was detected and was restricted to a small number of individuals. CONCLUSION: CHI3L1 contains common cis-acting regulatory variants that affect gene expression in lymphoblasts. A previously identified schizophrenia susceptibility variant was significantly associated with allelic imbalance in lymphoblasts. These findings do not support the notion that the schizophrenia-associated CHI3L1 variants influence gene expression in BA46 of the adult brain. We confirm that CHI3L1 contains cis-acting variation but is subject to tissue-specific regulation.
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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 | 0.000 | 0.000 |
| 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