P4‐112: The sortilin‐related receptor (SORL1) influences variation in memory in late‐onset Alzheimer disease
Bibliographic record
Abstract
Recent studies implicated the neuronal sortilin-related receptor gene SORL1 as a susceptibility gene for late-onset Alzheimer disease (AD). We explored whether variation in SORL1 is associated with memory performance using 2 independent datasets. We first examined the association between measures of cognitive function and the same 29 single nucleotide polymorphisms (SNPs) used in our earlier paper (Rogaeva et al, 2007) in 1,180 individuals from 228 families participating in the Caribbean Hispanic Family Study of Familial Alzheimer disease using family-based association analyses. Then we explored the association of the same 29 SNPs with memory performance in 425 Caribbean Hispanics (212 cases vs. 213 controls) from a multiethnic random sample of Medicare recipients ≥65 years and residing in northern Manhattan. In the family cohort, haplotypes at SNPs 1-4 (p=0.0008), 7-10 (p=0.05) and 14-18 (p=0.003) were significantly associated with measures of memory performance. In the epidemiological cohort, we replicated these findings by showing that haplotypes at SNPs 1-3 were significantly associated with total recall (p=0.02) and Benton recognition (p=0.04), haplotypes at SNPs 15-17 were associated with total recall (p=0.05) and Benton recognition (p=0.03), haplotypes at SNPs 21-23 were associated with total recall (p=0.05), delayed recall (p=0.02) and Benton recognition (p=0.03), and haplotypes at SNPs 27-29 were associated with total recall (p=0.02), delayed recall (p=0.0008) and Benton recognition (p=0.02). However, these SNPs that were significant for memory performance were not associated with abstract reasoning and language function. Genetic variation in SORL1 is specifically associated with memory function.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 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".