Table 3 Genes harboring rare variants associated with FTLD-TDP
Group | Gene name | Number of variants | Number of patients | cMAFa in patients | Number of controls | cMAFa in controls | P |
|---|---|---|---|---|---|---|---|
FTLD-TDP ALL | TBK1 | 9 | 9 | 4.57 × 10−3 | 0 | 0 | 1.05 × 10−6 |
FTLD-TDP A | TBK1 | 3 | 3 | 7.77 × 10−3 | 0 | 0 | 1.27 × 10−11 |
FTLD-TDP A | C3AR1 | 3 | 3 | 7.77 × 10−3 | 4 | 6.34 × 10−4 | 6.51 × 10−7 |
FTLD-TDP A | SMG8 | 4 | 3 | 7.77 × 10−3 | 1 | 1.59 × 10−4 | 9.11 × 10−7 |
FTLD-TDP B | TBK1 | 5 | 5 | 8.68 × 10−3 | 0 | 0 | 3.17 × 10−12 |
FTLD-TDP B | VIPR1 | 4 | 3 | 5.21 × 10−3 | 1 | 1.59 × 10−4 | 4.65 × 10−7 |
FTLD-TDP C | RBPJL | 6 | 5 | 5.35 × 10−3 | 3 | 4.76 × 10−4 | 6.39 × 10−7 |
FTLD-TDP C | L3MBTL1 | 9 | 8 | 8.57 × 10−3 | 3 | 4.76 × 10−4 | 2.38 × 10−7 |
FTLD-TDP C | ANO9 | 5 | 8 | 8.57 × 10−3 | 6 | 9.52 × 10−4 | 1.39 × 10−6 |
FTLD-TDP C* | ANO9 | 4 | 4 | 1.01 × 10−2 | 6 | 9.52 × 10−4 | 1.50 × 10−6 |
