No association between alleles of the bradykinin receptor-B2 gene and acute mountain sickness
Bibliographic record
Abstract
The pathophysiological mechanism(s) of the development of acute mountain sickness (AMS) is still unclear. Although the chance of developing AMS and the severity of the condition are influenced by ascent rate and altitude attained, previous history is a reliable predictor of subsequent affliction, and some individuals and families are clearly predisposed, suggesting a genetic component to susceptibility. As the vasodilator bradykinin may be involved in acclimatization to altitude, we hypothesized that variants in genes encoding components of this pathway might play a role in AMS susceptibility. We tested this by looking for associations between two functional polymorphisms (the in/del polymorphism +9/-9 [rs5810761] and the single-nucleotide polymorphism C--58T [rs1799722]) of BDKRB2 (the gene encoding the bradykinin receptor B2) and susceptibility to AMS in an altitude-exposed Nepalese population. Lowland attendees (n = 233) at a religious festival at 4380 m in the Nepalese Himalaya were recruited and assessed for AMS by clinical evaluation and Lake Louise score (LLS). Those with a clinical diagnosis of AMS and an LLS >or=3 were designated AMS+ (n = 100) and those without a diagnosis of AMS and with an LLS <3 were categorized as AMS- (n = 117). DNA was prepared from buccal cells, genotyped for the two polymorphisms and allele frequencies compared between the two cohorts. No association was found between alleles at either polymorphism and susceptibility to AMS (P > 0.50), although C - 58T heterozygotes were significantly more common (P < 0.001, chi(2) = 49.6) in the subjects than would be predicted if the population was in Hardy-Weinberg equilibrium. The results of our association study do not support the hypothesis that variants in BDKRB2 influence altitude tolerance in a lowland Nepalese population; however, the deviation from Hardy-Weinberg equilibrium observed for the C - 58T polymorphism could be explained by self-selection for altitude tolerance in the festival attendees.
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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 | 0.002 |
| 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 | 0.001 | 0.000 |
| Insufficient payload (model declined to judge) | 0.006 | 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".