SINGLE NUCLEOTIDE POLYMORPHSIM AND METHYLATION ANALYSIS OF HTR1B AND NOTCH4 IN SCHIZOPHRENIA AND AFFECTIVE DISORDER
Bibliographic record
Abstract
Schizophrenia and affective disorder are common, related mental disorders. They are episodic or chronic in nature and first present between adolescence and adulthood. The symptoms of the two diseases are variable, overlap and include mania, depression, delusions, hallucinations and disorganization of speech and behaviour. Treatments for both diseases include antidepressants and antipsychotics, but there are no cures. Both are thought to be neurodevelopmental in nature and family studies have demonstrated strong genetic components. The search for these genetic components has identified a number of genomic regions and candidate genes but no causal gene. Ofthese genomic regions, both the long and short arm of chromosome 6 have consistently produced positive associations. This study was undertaken to examine the possible contribution of two candidate genes from chromosome 6 to schizophrenia and affective disorder, the serotonin 1B gene (HTRIB) from 6ql3 and NOTCH4 from 6p21.3. HTR1B is considered a candidate due to its autoregulatory role in the serotonin system while NOTCH4 is considered due to the neurodevelopmental nature of the diseases and the role it plays during brain development. Schizophrenia studies on the two genes involved the association of SNPs in a casecontrol study representing a sample from Southwestern Ontario and methylation analysis of the translational start using sodium bisulfite (which also included 31 regions of a human brain). The affective disorder studies on the two genes examined the same SNPs and methylation in an extended family. The results indicated that none of the 14 polymorphisms from HRTlB or NOTCH4 were associated with schizophrenia in the case-control sample. Further, these iii polymorphisms showed no association with affective disorder in the family based studies. Methylation analysis indicated that the translational start of HTRIB was completely unmethylated in the blood of all control and affected individuals for both diseases. NOTCH4 translational start analysis showed variable/partial methylation at -25C in both schizophrenia and affective disorder samples but was not associated to either disease. Variable/partial methylation was also observed at -25C in different brain regions which are known to have different levels of NOTCH4 expression.
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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 | 0.000 | 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 | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.001 |
| 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 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".