TABLE 4.
Pathway | Genes | Number of variants | P | Corrected P value |
Aβ degradation | NEP, IDE, MMP9, ACE, ECE1, MMEL1 | 351 | 0.054 | 0.021* |
IDE, MMP9, ACE, ECE1, MMEL1 | 291 | 0.170 | 0.071 | |
Aβ generation | BACE1, BACE2 | 102 | 0.252 | 0.098 |
Tau kinase | GSK3B, CDK5, MARK1 | 131 | 0.641 | 0.710 |
Tau pathology | FERMT2, BIN1 | 82 | 0.009 | 0.031* |
BIN1 | 54 | 0.087 | 0.207 | |
Tau phosphatase | PPME1, PPP2CA, PPP2R2A, PIN1, ANP32A, LCMT1 | 113 | 0.017 | 0.033* |
PPP2CA, PPP2R2A, PIN1, ANP32A, LCMT1 | 91 | 0.206 | 0.129 |
In the Aβ degradation, tau pathology, and tau phosphatase pathways, the driver genes are in bold. P value, P value before correction; Corrected P-value, P-value after the adjustment of age, gender, and APOE ε4 status; SKAT-O, optimized sequence kernel association test.
*Corrected P-value < 0.01 (0.05/5) was considered as statistically significant.