Table 1. Demographics of analyzed Alzheimer’s disease (AD) endophenotypes.
| Total | Amyloid-PET | Aβ42 | Tau | pTau181 | sTREM2 | |
|---|---|---|---|---|---|---|
| Sample size | 9,526 | 5,541 | 5,093 | 5,127 | 4,778 | 2,123 |
| Female (%) | 51.86 | 54.54 | 49.30 | 49.19 | 48.68 | 50.31 |
| Age, mean (SD) | 68.93 (11.13) | 69.53 (10.73) | 67.04 (13.27) | 67.15 (13.30) | 66.93 (13.43) | 68.17 (12.13) |
| APOE ε4+ (%) | 39.03 | 37.39 | 40.74 | 41.08 | 39.47 | 42.11 |
| Biomarker, mean (SD) | 0.028 (0.02) | 0.045 (1.03) | -0.0018 (1) | 0.027 (1) | 0.02 (1) | 0.05 (0.98) |
| Klotho-VSHET+ (%) | 25.76 | 25.99 | 25.31 | 25.16 | 25.09 | 25.20 |
| Cases | 3,109 | 1,090 | 2,424 | 2,443 | 2,297 | 1,074 |
| Controls | 5,286 | 4,117 | 1,584 | 1,589 | 1,582 | 879 |
Demographics of participants at the time of amyloid PET imaging and CSF sampling. This table summarizes basic demographic information of participants included in the analysis. For each modality, we report percentage of females, mean age of the participants and standard deviation (SD) in the age, percentage of APOE ε4-carriers (APOE ε4+) participants, mean value of the endophenotypic biomarker and its SD, percentage of KL-VS heterozygous (KL-VSHET+) participants, and number of cases and controls. Samples with missing case/controls status were also considered in the ‘all participants’ analysis. To normalize endophenotypes across different cohorts, we converted different amyloid imaging measures (e.g., Centiloid, PiB, and AV45) into log-normalized z-score using “scale” function in base R. Phenotype from each cohort was normalized individually to account for within cohort variation. These AD endophenotypes are used for checking their association with KL-VSHET+. Abbreviations: PET, positron emission tomography; Aβ, β-amyloid; pTau, phosphorylated tau; soluble triggering receptor expressed on myeloid cells 2, sTREM2; sd, standard deviation; KL-VS, Klotho-VS; Het+, heterozygosity.