Association between schizohprenia and UFD1L. A developmental gene mapped to chromosome 22
Bibliographic record
Abstract
Schizophrenia or schizoaffective disorders are often found in patients affected by DiGeorge/velo-cardio-facial syndrome (DGS/VCFS) as a result of hemizygosity of chromosome 22q11.2. We evaluated the UFD1L, gene mapped within the DGS/VCFS region, as a potential candidate for schizophrenia susceptibility. UFD1L encodes the Ubiquitin Fusion Degradation 1 Protein, which is expressed in the medical telencephalon during mouse development. UFD1L mRNA and protein were investigated by RT-PCR and Western blot analysis. The UFD1L promoter-277A/G polymorphism was determined using a polymerase chain reaction-based method in DNA samples from 61 patients with DSM-IV schizophrenia and 67 healthy control subjects. Results were confirmed in 22 nuclear families using a TDT analysis. We demonstrated the presence of UFD1L mRNA and protein in different areas of the human brain, and found a positive association between a novel intragenic SNP (Single Nucleotide Polymorphism) and schizophrenia. We demonstrated that the -277A variant of this SNP is associated with schizophrenia susceptibility. In addition, we also provided evidence that this allele variant causes a 55% increase in the transcriptional activity of UFD1L gene. This result suggests the involvement of the UFD1L gene in susceptibility to schizophrenia. This research was supported by a grant from the Italian Ministry of Health and grants E723 and 264/bi from Telethon Foundation.
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How this classification was reachedexpand
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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 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 | 0.001 |
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 teacher head, 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".