Table 3.
Allele Frequency and Fisher Tests of Single Nucleotide Polymorphisms in Caucasians
| Targeted Sequencing, Carriers | Targeted Sequencing Frequency | ||||||||
|---|---|---|---|---|---|---|---|---|---|
| Gene | ID | NIA‐LOAD | Toronto (autopsy cases) | NIA‐LOAD | Toronto | ||||
| Unaffected | LOAD | Unaffected | LOAD | LOAD | LOAD | ExAC Frequency in Europeans | p, Fisher Test | ||
| BIN1 | rs138047593 | 0 | 1 | 0 | 7 (4) | 0.004386 | 0.016667 | 1.82E‐02 | 3.69E‐01 |
| CD2AP | rs138727736 | 0 | 0 | 0 | 4 (2) | 0 | 0.009524 | 4.73E‐03 | 1.37E‐01 |
| CD2AP a | rs116754410 | 0 | 0 | 0 | 1 (1) | 0 | 0.002381 | 3.06E‐05 | 5.33E‐08 |
| EPHA1 a | rs202178565 | 0 | 1 | 0 | 1 | 0.004386 | 0.002381 | 4.05E‐04 | 3.07E‐02 |
| CLU | rs41276297 | 0 | 0 | 0 | 2 | 0 | 0.004762 | 2.51E‐03 | 2.82E‐01 |
| MS4A6A | rs138650483 | 1 | 1 | 0 | 1 | 0.00431 | 0.002381 | 3.76E‐03 | 1.00E+00 |
| PICALM | rs147556602 | 0 | 0 | 1 | 0 | 0 | 0 | 3.61E‐04 | 1.00E+00 |
| PICALM a | rs117411388 | 0 | 2 | 0 | 2 | 0.00885 | 0.004762 | 1.11E‐03 | 6.84E‐03 |
| ABCA7 | rs201665195 | 0 | 1 | 0 | 1 | 0.004348 | 0.002381 | 1.14E‐03 | 1.82E‐01 |
| ABCA7 | rs143718918 | 0 | 1 | 0 | 1 | 0.004425 | 0.002381 | 2.11E‐03 | 3.89E‐01 |
| ABCA7 | rs117187003 | 0 | 4 | 1 | 1 | 0.017857 | 0.002381 | 4.16E‐03 | 2.01E‐01 |
| ABCA7 a | 19:1058154 | 0 | 1 | 0 | 1 | 0.004425 | 0.002381 | 3.02E‐05 | 5.34E‐04 |
a
Nominally significant single nucleotide variants.
ExAC = Exome Aggregation Consortium; LOAD = late onset Alzheimer disease; NIA = National Institute on Aging.