A family‐ and population‐based study of the UFD1L gene for schizophrenia
Bibliographic record
Abstract
The present work was undertaken to investigate the association of the UFD1L locus with schizophrenia among 304 Chinese family trios of Han descent. We detected four single nucleotide polymorphisms (SNPs) in the 5'-end region of the UFD1L gene. The transmission disequilibrium test (TDT) revealed allelic associations for rs5746744 (chi(2) = 8.02, P = 0.005) and rs1547931 (chi(2) = 7.18, P = 0.007), but failed to replicate disease association for rs5992403 present in the promoter region, which was initially found in Italian and Canadian samples. The allelic association for rs5746744 and rs1547931 was replicated with independently recruited case-control samples. The 2-SNP haplotype analysis showed an association for the rs5992403-rs5746744 haplotypes (chi(2) = 18.92, df = 3, P = 0.0003), the rs5746744-rs1547931 haplotypes (chi(2) = 11.06, df = 3, P = 0.011) and the rs1547931-rs2238769 haplotypes (chi(2) = 18.88, df = 3, P = 0.0003). The 4-SNP haplotype analysis also showed strong association with illness (chi(2) = 29.54, df = 9, P = 0.0005) but there were more than one individual haplotypes with a low frequency excessively non-transmitted. The four SNPs tested were not located in the same LD block among the Chinese population. This study raises the possibility that a disease-resistant variant may be carried by two or more haplotypes at the UFD1L locus due to frequent recombination during meiosis.
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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 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 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) | 0.003 | 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".