Table 4.
Quantitative trait analyses for TREM2, PLCG2, and ABI3 variants of interest using CSF levels of Aβ42, tau, pTau, and amyloid imaging, using individuals with GWAs or WES data from Knight-ADRC and NIA-LOAD cohorts
| Phenotype | Locus (variant) | β | 95% CI | P | N |
|---|---|---|---|---|---|
| Aβ42 | TREM2 (p.R62H) | −0.19 | −1.32, 0.95 | 0.745 | 556 |
| TREM2 (p.R47H) | −0.68 | −1.34, 0.03 | 0.041 | 557 | |
| PLCG2 (p.P522R) | 0.19 | −0.47, 0.85 | 0.576 | 558 | |
| ABI3 (p.S209F) | 0.08 | −0.49, 0.66 | 0.773 | 556 | |
| tau | TREM2 (p.R62H) | 0.23 | −0.80, 1.26 | 0.666 | 557 |
| TREM2 (p.R47H) | 0.12 | −0.51, 0.75 | 0.710 | 558 | |
| PLCG2 (p.P522R) | −0.05 | −0.65, 0.55 | 0.860 | 559 | |
| ABI3 (p.S209F) | 0.01 | −0.51, 0.53 | 0.973 | 557 | |
| pTau | TREM2 (p.R62H) | 0.21 | −0.86, 1.29 | 0.695 | 551 |
| TREM2 (p.R47H) | 0.23 | −0.47, 0.93 | 0.526 | 552 | |
| PLCG2 (p.P522R) | −0.02 | −0.64, 0.61 | 0.957 | 553 | |
| ABI3 (p.S209F) | 0.05 | −0.49, 0.60 | 0.854 | 551 | |
| Amyloid imaging | TREM2 (p.R62H) | 0.01 | −0.13, 0.16 | 0.889 | 420 |
| TREM2 (p.R47H) | 0.17 | 0.05, 0.30 | 0.008 | 420 | |
| PLCG2 (p.P522R) | −0.01 | −0.09, 0.08 | 0.904 | 420 | |
| ABI3 (p.S209F) | 0.06 | −0.02, 0.15 | 0.143 | 418 |
β, beta; CI, confidence interval; p, p-value; N, number of samples included. Significant p-values after Bonferroni correction in bold.