Table 3.
Gene-based association results identified from EA individuals
| Stage 1 | Stage 2 Cohorts (MIRAGE + NIA-LOAD) | Stage 1 + 2 | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| High Impact Variants (SWS threshold - p< 2.18×10−5) | ||||||||||||
| Gene Symbol | Chr | Start | End | cMAC | # SNPs | cMAF | p-value | Best Model | # SNPs MIRAGE | # SNPs LOAD | Meta p-value | Meta p-value |
| JMJD4 | 1 | 227,920,244 | 227,922,975 | 16 | 10 | 0.00148 | 3.56E-05 | M0 | 7 | 6 | 9.36E-01 | 0.0019 |
| ANXA5 | 4 | 122,593,712 | 122,605,898 | 13 | 6 | 0.0012 | 4.66E-05 | M0 | 6 | 2 | 1.24E-01 | 2.27E-05 |
| ASB13 | 10 | 5,682,665 | 5,695,015 | 12 | 2 | 0.00111 | 4.32E-05 | M1 | 3 | 0 | 1.83E-01 | 5.20E-05 |
| ASCC1 | 10 | 73,857,161 | 73,970,584 | 122 | 5 | 0.01126 | 2.51E-06 | M2 | 6 | 5 | 7.89E-01 | 0.00019 |
| C1orf173 | 1 | 75,037,039 | 75,102,074 | 11 | 10 | 0.00102 | 4.41E-05 | M2 | 15 | 12 | 1.38E-01 | 1.50E-05 |
| AARD | 8 | 117,954,812 | 117,954,935 | 16 | 2 | 0.00148 | 4.84E-05 | M2 | 3 | 0 | 6.16E-03 | 1.01E-06 |
| High/Moderate Impact Variants (SWS threshold - p< 3.12×10−6) | ||||||||||||
| IGHJ6 | 14 | 106,329,417 | 106,329,468 | 10 | 9 | 0.00093 | 3.46E-07 | M0 | 0 | 0 | NA | NA |
| DTYMK | 2 | 242,615,564 | 242,625,278 | 15 | 13 | 0.00138 | 2.95E-11 | M2 | 0 | 3 | 6.60E-01 | 3.40E-08 |
Chr = chromosome; cMAC = cumulative minor allele account; cMAF = cumulative minor allele frequency; EA = European Ancestry; CH = Caribbean Hispanic
M0 = Model 0: adjustment for PCs and sequencing center; M1 = Model 1: same adjustments as Model 0 + age and sex; M2 = Model 2: same adjustments as Model 1 + APOE ɛ4 status and APOE ɛ2 status
Study-wide significant (SWS) results highlighted in bold