5049Genetic association study suggests involvement of sex-specific serotonin signaling in vasovagal syncope
Bibliographic record
Abstract
Background: Phenotypic studies suggest that vasovagal syncope is a familial trait, and several single nucleotide polymorphisms (SNPs) associate with positive tilt tests. Serotonin signaling may be involved. Objective: We assessed the association of 12 plausible candidate gene polymorphisms in a kindred study of families with a high prevalence of vasovagal syncope. Methods: We studied 160 subjects of 9 kindreds with 33 generations, ≥1 fainter per generation, and ≥4 fainters. The diagnosis was ascertained with the Calgary Syncope Score. Common polymorphic variants were genotyped for 12 associated genes for vascular signaling, potassium channels, serotonin 5-HT1a receptor (HTR1A), the serotonin reuptake transporter, and catecholamine O-methyl transferase (COMT). Results: The multigeneration kindreds contained 160 subjects, with 82 fainters and 78 controls. In 9/12 polymorphic variants there was no significant association between genotype and syncope phenotype. However, the serotonin receptor HTR1A (c.-1019G>C) genotype associated with syncope in males but not females (p=0.005). Genotypes of CC and GG male carriers had 9% and 77% likelihoods of syncope, respectively. The serotonin transporter SLC6A4 long/short (L/S) promotor alleles associated with decreased syncope in males but increased in females (p=0.059). The LL and SS genotypes in males had 25% and 47% s syncope likelihoods, while in females had 75% and 50% syncope likelihoods. The catecholamine O-methyltransferase (COMT, c.472G>A) alleles associated with decreased syncope in males but increased in females (p=0.017). The GG and AA genotypes in males had 50% and 15% syncope likelihoods, while in females had 52% and 73% syncope likelihoods.
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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 | 0.000 | 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 | 0.000 | 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) | 0.013 | 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 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".