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Showing 1 of 382 rows for Rare copy-number variants (22q11.21 dosage, ABCA1 / ABCA7 deletions). One row per study per exposure: a study that tested two different things appears twice, once for each.
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| Exposure | Question | Direction | Outcome measured | Design | People | Effect size, as the source reported it | Source |
|---|---|---|---|---|---|---|---|
| Rare copy-number variants (22q11.21 dosage, ABCA1 / ABCA7 deletions) Genes (not modifiable) | Prevention |
Mixed
whyThe two kinds of variant point opposite ways: deletions and loss-of-function alleles in ABCA1 and ABCA7 and 22q11.21 deletions raised AD risk, while 22q11.21 duplication lowered it (odds ratio 0.34 at exome-wide significance in replication). Not modifiable. |
Alzheimer's disease case status (early- and late-onset) by rare copy-number variant burden and 22q11.21 dosage | case-control study | 22,319 | ABCA1 (odds ratio [OR] = 5.77 [95% confidence interval 2.25; 17.06], p = 0.0002) and ABCA7 deletions contribute to this deletion burden (OR = 2.29 [1.44; 3.65], p = 0.0006), while CTSB LoF alleles appear as candidates (OR = 5.03 [1.50; 20.71], p = 0.0089) ... Replication in 33,977 affected individuals and 362,322 control subjects confirmed association for 22q11.21 dosage with exome-wide significance (ORSCARF2 = 0.34 [0.21; 0.53]; mega-p value = 5.52 × 10-7) |
American Journal of Human Genetics
2026 ✓ Peer-reviewed PMID 42648288 |