Table 4.
Summary of association from meta-analysis in people with other ancestries.
| Gene | Variant | MAFa | AD-ORb | Meta-analysis | ||
|---|---|---|---|---|---|---|
| NP-OR | P-value | Q-valuec | ||||
| Braak NFT stage | ||||||
| ABCA7 | rs12151021 | 0.38 | 1.1 | 1.68 | 0.0072 | 0.42 |
| MME | rs16824536 | 0.12 | 0.92 | 0.54 | 0.021 | 0.53 |
| RBCK1 | rs1358782 | 0.14 | 0.95 | 0.58 | 0.029 | 0.53 |
| BIN1 | rs6733839 | 0.40 | 1.17 | 1.49 | 0.046 | 0.53 |
| USP6NL | rs7912495 | 0.37 | 1.06 | 1.48 | 0.049 | 0.53 |
| Neocortical neuritic plaques | ||||||
| ABCA7 | rs12151021 | 0.38 | 1.1 | 1.73 | 0.0046 | 0.18 |
| BIN1 | rs6733839 | 0.40 | 1.17 | 1.74 | 0.0063 | 0.18 |
| ANK3 | rs7068231 | 0.46 | 0.95 | 0.59 | 0.012 | 0.23 |
| TDP-43 in any brain regions | ||||||
| PLCG2 | rs12446759 | 0.49 | 0.95 | 0.35 | 0.0042 | 0.23 |
| Lewy bodies in any brain regions | ||||||
| MS4A4A | rs1582763 | 0.23 | 0.91 | 0.45 | 0.0078 | 0.45 |
| BIN1 | rs6733839 | 0.40 | 1.17 | 1.60 | 0.020 | 0.58 |
| Hippocampal sclerosis | ||||||
| ANKH | rs112403360 | 0.058 | 1.09 | 5.82 | 0.0048 | 0.27 |
| CLU | rs11787077 | 0.38 | 0.91 | 2.83 | 0.0096 | 0.27 |
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.
a
MAFs are calculated from 1000 genome phase 3 in other populations (AFR, African; AMR, Admixed American; EAS, East Asian; SAS, South Asian).
b
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).
c
Q-value indicates the false discovery rate (FDR) adjusted p-value with the Benjamini-Hochberg procedure.