S4‐03‐01: Genome Wide Association Study in Late‐onset Alzheimer'S Disease Among Caribbean Hispanics Supports Clu, Picalm, Bin1, And Cugbp2 And Identifies Novel Loci
Bibliographic record
Abstract
Several recent genome wide studies have reported candidate genes, but they are entirely based on Caucasian cohorts. Here we present findings from a genome wide search for late onset Alzheimer's disease (LOAD) susceptibility loci in Caribbean Hispanics. We also replicated the findings from a publicly available GWAS dataset from the NIA-LOAD family study. We performed a genome wide association analysis using 549 affected and 544 unaffected individuals, both of Caribbean Hispanic ancestry. The Illumina HumanHap 650Y chip was used for genotyping. The strongest support for allelic association was observed for rs9945493 on 18q23 (p = 1.7E-7), but 22 additional SNPs had a p-value<9E-6 under three different analyses: unadjusted, and stratified on presence or absence of the APOE ε4 allele. Of these SNPs, five SNPs (rs4669573 and rs10197851 on 2p25.1; rs11711889 on 3q25.2; rs1117750 on 7p21.1; and rs7908652 on 10q23.1) were also associated with LOAD in an independent cohort, the NIA-LOAD GWAS. We also replicated previously reported genetic associations for CLU, PICALM, BIN1, and CUGBP2. Our genome wide search of Caribbean Hispanics identified several novel candidate SNPs associated with LOAD, and replicated the associations in a Caucasian cohort. In addition, we observed modest allelic associations in CLU, PICALM, BIN1 and CUGBP2 in Caribbean Hispanics, which had been previously replicated in multiple Caucasian cohorts.
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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) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.002 |
| Science and technology studies | 0.001 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.000 | 0.001 |
| Insufficient payload (model declined to judge) | 0.008 | 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".