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Table 4 Gene-specific cellular proportion analysis for Knight-ADRC and Mount Sinai Brain Bank studies

From: Genetic variants associated with Alzheimer’s disease confer different cerebral cortex cell-type population structure

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
  1. AD Alzheimer’s disease, ADAD autosomal dominant AD, LOAD late-onset AD, CDR Clinical Dementia Rating