P4‐243: ATP5H/KCTD2 locus and Alzheimer's disease: An etiological link between key brain functions and dementia
Bibliographic record
Abstract
Genome-wide association studies (GWAS) are being employed to look for novel genetic markers associated with Alzheimer's disease (AD) susceptibility. We conducted a meta-analysis of novel and existing genome-wide association studies (GWAS) of AD in 4043 cases and 4192 controls, and examined the suggestive results (P <0.001) in the CHARGE consortium sample (n = 1367 cases, 12904 controls). 6 novel signals reaching P <5X10 -6 were genotyped in an independent replication sample comprising 2200 sporadic AD patients and 2301 controls. The total study sample of 24,227 persons is one of the largest meta-GWAS conducted to date. We identified a novel association with AD in the ATP synthase, H+ transporting, mitochondrial F0 (ATP5H) / Potassium channel tetramerization domain-containing protein 2 (KCTD2) locus which reached genome-wide significance in the combined discovery and replication sample (rs11870474, odds ratio (OR) = 1.58; P = 2.646x10 -7 in discovery and odds ratio = 1.43, P = 0.004 in replication samples; combined OR = 1.53, P = 4.70x10 -9. Our results suggest that the ATP5H/KCT D2 locus is involved in determining AD risk. This locus has an important function in mitochondrial energy production and neuronal hyperpolarization during cellular stress conditions such as hypoxia or glucose deprivation.
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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 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 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".