Table 2.
Gene | Variant | MAFa | AD-ORb | Meta-analysis | ||
---|---|---|---|---|---|---|
NP-OR | P-value | Q-valuec | ||||
Braak NFT stage | ||||||
BIN1 | rs6733839 | 0.38 | 1.17 | 1.30 | 2.6 × 10−8 | 1.5 × 10−6 |
CR1 | rs679515 | 0.17 | 1.13 | 1.24 | 3.8 × 10−4 | 0.011 |
MME | rs16824536 | 0.032 | 0.92 | 0.70 | 9.8 × 10−4 | 0.016 |
COX7C | rs62374257 | 0.21 | 1.07 | 1.20 | 0.0011 | 0.016 |
SPI1 | rs10437655 | 0.38 | 1.06 | 1.13 | 0.0064 | 0.071 |
EED/PICALM | rs3851179 | 0.37 | 0.90 | 0.88 | 0.0089 | 0.075 |
INPP5D | rs10933431 | 0.23 | 0.93 | 0.86 | 0.0094 | 0.075 |
Neocortical neuritic plaques | ||||||
BIN1 | rs6733839 | 0.38 | 1.17 | 1.21 | 3.9 × 10−5 | 0.0022 |
EED/PICALM | rs3851179 | 0.37 | 0.90 | 0.85 | 0.0010 | 0.021 |
MME | rs16824536 | 0.032 | 0.92 | 0.70 | 0.0011 | 0.021 |
APH1B | rs117618017 | 0.14 | 1.11 | 1.23 | 0.0020 | 0.026 |
RBCK1 | rs1358782 | 0.27 | 0.95 | 0.85 | 0.0023 | 0.026 |
FERMT2 | rs17125924 | 0.080 | 1.10 | 1.25 | 0.0047 | 0.044 |
PTK2B | rs73223431 | 0.35 | 1.07 | 1.13 | 0.0088 | 0.071 |
TDP-43 in any brain regions | ||||||
TMEM106B | rs13237518 | 0.40 | 0.96 | 0.78 | 1.0 × 10−4 | 0.0059 |
SORL1 | rs74685827 | 0.015 | 1.19 | 1.85 | 0.0042 | 0.092 |
GRN | rs5848 | 0.30 | 1.07 | 1.22 | 0.0049 | 0.092 |
TPCN1 | rs6489896 | 0.094 | 1.08 | 1.42 | 0.0071 | 0.10 |
Lewy bodies in any brain regions | ||||||
BIN1 | rs6733839 | 0.38 | 1.17 | 1.16 | 0.0012 | 0.068 |
USP6NL | rs7912495 | 0.45 | 1.06 | 1.14 | 0.0043 | 0.12 |
Hippocampal sclerosis | ||||||
TMEM106B | rs13237518 | 0.40 | 0.96 | 0.64 | 9.3 × 10−7 | 5.2 × 10−5 |
GRN | rs5848 | 0.30 | 1.07 | 1.53 | 2.1 × 10−6 | 5.8 × 10−5 |
WNT3 | rs199515 | 0.22 | 0.94 | 0.69 | 0.0014 | 0.025 |
TNIP1 | rs871269 | 0.34 | 0.96 | 0.75 | 0.0018 | 0.025 |
ACE | rs4277405 | 0.37 | 0.94 | 1.12 | 0.0082 | 0.089 |
SCIMP | rs7225151 | 0.14 | 1.08 | 1.36 | 0.0095 | 0.089 |
Abbreviations: AD = Alzheimer’s disease; MAF = minor allele frequency; NFT = neurofibrillary tangle; NP = neuropathology; OR = odds ratio; TDP-43 = TAR DNA binding protein 43 kDa.
MAFs are calculated from 1000 genome phase 3 in Europeans (EUR) population.
AD-OR represents clinical AD related odds ratios reported in “New insights into the genetic etiology of Alzheimer’s disease and related dementias” (Bellenguez et al., 2022).
Q-value indicates the false discovery rate (FDR) adjusted p-value with the Benjamini-Hochberg procedure.