Table 1.
Overview of binary and quantitative traits available for genome-wide association study (GWAS) and polygenic risk score (PRS) analyses in EMIF-AD MBD and ADNI datasets.
| EMIF-AD MBD (Discovery) | ADNI (Replication) | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Category | Variable type | Variable | Description | #sample_n | GWAS | PGS | Variable | #sample_n | GWAS |
| Clinical diagnosis | Binary | AD vs. NC | Alzheimer disease (AD) vs. normal cognition (NC) | 545 (212 AD vs. 333 NC) | YES | YES | AD vs. NC | 303 (46 AD vs. 257 NC) | YES |
| MCI vs. NC | Mild cognitive impairment (MCI) vs. normal cognition (NC) | 659 (326 MCI vs. 333 NC) | YES | YES | MCI vs. NC | 705(448 MCI vs. 257 NC) | YES | ||
| Amyloid protein assessment | Binary | AMYLOIDstatus_ALL | Dichotomous amyloid classification variable across all diagnostic groups | 871 (455 abnormal vs. 416 normal) | YES | YES | AMYLOIDstatus | 618 (361 abnormal vs. 257 normal) | YES |
| AMYLOIDstatus_MCI | Dichotomous amyloid classification variable in MCI subjects | 326 (189 abnormal vs. 137 normal) | YES | YES | AMYLOIDstatus_MCI | 371 (232 abnormal vs. 139 normal) | YES | ||
| AMYLOIDstatus_NC | Dichotomous amyloid classification variable in NC subjects | 333 (77 abnormal vs. 256 normal) | YES | YES | AMYLOIDstatus_NC | 202 (88 abnormal vs. 114 normal) | YES | ||
| Central_CSF_ratiodich | Dichotomous variable based on ratio of central CSF amyloid-42/40 values | 677 (418 abnormal vs. 259 normal) | YES | YES | NA | NA | NA | ||
| Local_AB42_Abnormal | Dichotomous variable of local CSF amyloid-beta-42 values | 726 (392 abnormal vs. 334 normal) | YES | YES | AB42_abnormal | 578 (340 abnormal vs. 238 normal) | YES | ||
| Quantitative | AB_Zscore | Z-score for amyloid pathology | 890 | YES | YES | AB_Zscore | 578 | YES | |
| log_Central_CSF_AB42 | Log-transformed central CSF amyloid-beta-42 values | 677 | YES | YES | ABETA.Lumi.bl | 578 | YES | ||
| Central_CSF_AB38 | Central CSF Amyloid-beta-38 values | 675 | YES | YES | ABETA38.MSM.bl | 548 | YES | ||
| Central_CSF_AB40 | Central CSF Amyloid-beta-40 values | 677 | YES | YES | ABETA40.MSM.bl | 548 | YES | ||
| log_Central_CSF_AB4240ratio | Ratio of log-transformed central CSF amyloid-beta-42 vs. 40 values | 677 | YES | YES | NA | NA | NA | ||
| Tau protein assessment | Binary | Local_TTAU_Abnormal | Dichotomous variable of local CSF total-tau values | 724 (378 abnormal vs. 346 normal) | YES | YES | NA | NA | NA |
| Local_PTAU_Abnormal | Dichotomous variable of local CSF phospho-tau values | 726 (354 abnormal vs. 372 normal) | YES | YES | NA | NA | NA | ||
| Quantitative | Ttau_ASSAY_Zscore | Z-score for CSF total-tau values | 723 | YES | YES | log_TTAU_Zscore | 571 | YES | |
| Ptau_ASSAY_Zscore | Z-score for CSF phospho-tau values | 726 | YES | YES | log_PTAU_Zscore | 576 | YES | ||