Common Haplotypes in the <i>β</i> -2 Adrenergic Receptor Gene Are Not Associated with Acute Mountain Sickness Susceptibility in Nepalese
Bibliographic record
Abstract
Acute Mountain Sickness (AMS), the most common and least serious of the altitude-related illnesses, is frequently experienced by sojourners traveling above 2500 m. Although altitude and rate of ascent are likely the most critical factors in determining whether the condition will develop in a person, interindividual variation and patterns of susceptibility suggest that there may be genetic risk factors as well. We hypothesized that variants in the gene that encodes the beta-2 adrenergic receptor (the principal catecholamine receptor in the lungs) are involved in the etiology of AMS and tested this hypothesis in cohorts of Nepalese individuals who developed or did not develop AMS when attending the Purnima Festival at Lake Gosain Kunda at 4380. Polymorphisms that could serve as markers for the common haplotypes encompassing the gene were chosen using the HapMap database. We found no association between any alleles at the seven highly informative polymorphic loci (tagSNPs) that we assayed and AMS status, suggesting that variants in, or near, the beta-2 adrenergic receptor gene do not contribute to AMS susceptibility in this population. This study is the first application of the HapMap database and associated haplotype mapping tools to the understanding of altitude-related pathologies.
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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 | 0.002 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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".