Table 4 Gene-specific cellular proportion analysis for Knight-ADRC and Mount Sinai Brain Bank studies
Variant carriers | Sample size | Neuron | Astrocyte | Oligodendrocyte | Microglia | ||||
|---|---|---|---|---|---|---|---|---|---|
n | Effect | p value | Effect | p value | Effect | p value | Effect | p value | |
Knight-ADRC | |||||||||
PLD3 vs Control | 49 | − 0.1 | 1.6 × 10−04 | 0.13 | 2.84 × 10−03 | − 0.03 | 6.17 × 10−02 | 7.05 × 10−04 | 7.89 × 10− 01 |
TREM2 vs Control | 36 | − 0.07 | 7.93 × 10−02 | 0.11 | 1.05 × 10−02 | − 0.03 | 4.9 × 10−02 | 1.65 × 10−03 | 5.84 × 10− 01 |
Sporadic AD vs Control | 45 | − 0.11 | 5.45 × 10−03 | 0.13 | 2.95 × 10−04 | − 0.02 | 4.55 × 10−01 | − 3.48 × 10−03 | 1.13 × 10−01 |
APOEε4+ vs APOEε4- LOAD cases & controls | 100 | − 0.06 | 2.11 × 10−02 | 0.05 | 5.35 × 10−02 | 0.01 | 3.72 × 10−01 | − 8.09 × 10−04 | 6.31 × 10−01 |
APOEε4+ vs APOEε4- LOAD cases only | 84 | − 0.06 | 2.69 × 10−02 | 0.03 | 2 × 10−01 | 0.03 | 1.4 × 10−02 | − 8.31 × 10−04 | 6.21 × 10−01 |
CDR corrected | 84 | − 0.06 | 2.78 × 10−02 | 0.03 | 2.05 × 10−01 | 0.03 | 1.16 × 10−02 | −1.05 × 10−03 | 5.37 × 10−01 |
Braak corrected | 73 | − 0.06 | 3.66 × 10−02 | 0.03 | 3.72 × 10−01 | 0.03 | 4.51 × 10−03 | − 1.14 × 10−03 | 5.93 × 10−01 |
Mount Sinai Brain Bank - Multi-region | |||||||||
AD TREM2 carriers vs Control | 301 | − 0.03 | 3.57 × 10−01 | 0.03 | 3.19 × 10−01 | − 2.08 × 10−03 | 7.87 × 10−01 | − 2.68 × 10−03 | 8.67 × 10−02 |
AD non-carriers TREM2 vs Control | 882 | − 0.07 | 1.91 × 10−08 | 0.08 | 1.25 × 10−08 | − 3.36 × 10−03 | 4.79 × 10−01 | − 2.89 × 10−04 | 7.97 × 10−01 |
AD TREM2 vs AD non-TREM2 | 673 | 0.05 | 1.98 × 10−02 | − 0.05 | 1.58 × 10−02 | 2.12 × 10−03 | 7.76 × 10−01 | − 2.13 × 10−03 | 1.74 × 10−01 |
CDR corrected | 673 | 0.04 | 5.83 × 10−02 | − 0.04 | 4.46 × 10−02 | 1.68 × 10−03 | 8.19 × 10−01 | − 1.92 × 10−03 | 2.22 × 10−01 |
Braak corrected | 642 | 0.05 | 1.3 × 10−02 | − 0.05 | 2.7 × 10−02 | − 1.82 × 10−03 | 8.13 × 10−01 | − 2.66 × 10−03 | 1.28 × 10−01 |
Mean plaque counts corrected | 673 | 0.05 | 2 × 10−02 | − 0.05 | 1.59 × 10−02 | 1.73 × 10−03 | 8.15 × 10−01 | − 2.2 × 10−03 | 1.5 × 10−01 |
APOEε4 counts all samples | 556 | − 0.04 | 2.6 × 10−03 | 0.05 | 1.31 × 10−03 | − 0.01 | 4.47 × 10−02 | −3.58 × 10−04 | 6.53 × 10−01 |
APOEε4 counts AD cases | 225 | − 0.03 | 4.01 × 10−02 | 0.03 | 4.23 × 10−02 | − 4.52 × 10−03 | 3.73 × 10−01 | − 5.13 × 10−04 | 6.78 × 10−01 |
CDR corrected | 225 | − 0.03 | 2.02 × 10−02 | 0.03 | 2.03 × 10−02 | − 4.86 × 10−03 | 3.19 × 10−01 | − 4.91 × 10−04 | 6.93 × 10−01 |
Braak corrected | 198 | − 0.03 | 7.35 × 10−02 | 0.04 | 4.89 × 10−02 | − 0.01 | 8.54 × 10−02 | −1.08 × 10−03 | 4.12 × 10−01 |