Table 1.
Gene-based rare variant association analysis results
| Rank | Gene | Case.masks | Control.masks | P value | FDR | OR (95% CI) |
| 1 | MOK | 9/362:2_mask1|1_mask2|3_mask3m| 1_mask4m|2_mask5m |
16/3740:2_mask1|1_mask2m|3_mask3m |6_mask4m|4_mask5m |
8.86E-07 | 0.00537722 | 7.9 (2.54 to 24.6) |
| 2 | SLC16A8 | 7/362:3_mask1|1_mask2m|2_mask3m| 1_mask5m |
15/3740:1_mask1|1_mask2|2_mask2m| 3_mask3m|7_mask4m|1_mask5m |
3.08E-06 | 0.009353846 | 7.42 (2.45 to 22.5) |
| 3 | OTUD4 | 6/362:1_mask2|5_mask5m | 6/3740:6_mask5m | 3.99E-06 | 0.010363375 | 16.9 (1.58 to 182) |
| 4 | DERA | 5/362:2_mask2|1_mask2m|1_mask3m| 1_mask5m |
16/3740:5_mask3m|11_mask5m | 5.72E-06 | 0.010404332 | 8.87 (2.12 to 37.1) |
| 5 | CEP170B | 9/362:1_mask1|4_mask2|1_mask4m| 3_mask5m |
44/3740:1_mask1|3_mask2|1_mask3m| 7_mask4m|32_mask5m |
6.38E-06 | 0.010562225 | 5.7 (1.97 to 16.5) |
| 6 | ACTRT1 | 5/362:1_mask1|2_mask2m|1_mask3m| 1_mask4m |
14/3740:3_mask3m|5_mask4m| 6_mask5m |
7.03E-06 | 0.010663846 | 9.9 (2.46 to 39.8) |
| 7 | RP11-477N12.3 | 6/362:3_mask1|2_mask3m|1_mask4m | 17/3740:2_mask1|4_mask3m|6_mask4m| 5_mask5m |
9.20E-06 | 0.011965967 | 7.36 (2.28 to 23.8) |
| 8 | MTNR1B | 3/362:1_mask2m|1_mask3m|1_mask4m | 6/3740:2_mask4m|1_mask5|3_mask5m | 1.02E-05 | 0.012327097 | 14.5 (1.78 to 118) |
| 9 | C9orf116 | 2/362:1_mask1|1_mask2 | 6/3740:6_mask5m | 1.74E-05 | 0.018556476 | 21.7 (2.23 to 211) |
| 10 | NFASC | 9/362:1_mask2|3_mask3m|1_mask4m| 4_mask5m |
28/3740:6_mask3m|3_mask4m|2_mask5| 17_mask5m |
2.52E-05 | 0.021565566 | 5.77 (1.56 to 21.4) |
| 11 | SYPL1 | 4/362:1_mask2|3_mask5m | 2/3740:2_mask5m | 2.88E-05 | 0.021565566 | 23.7 (1.42 to 393) |
| 12 | FGF3 | 4/362:1_mask1|2_mask4m|1_mask5m | 6/3740:3_mask4m|3_mask5m | 3.00E-05 | 0.021565566 | 13.4 (1.81 to 99.5) |
| 13 | LDHD | 7/362:3_mask2|2_mask2m|1_mask3m|1_mask5m | 44/3740:1_mask1|7_mask3m|13_mask4m|23_mask5m | 3.06E-05 | 0.021565566 | 4.75 (1.66 to 13.6) |
| 14 | CES1 | 5/362:5_mask1 | 11/3740:4_mask1|1_mask2|2_mask2m| 2_mask4m|2_mask5m |
3.26E-05 | 0.021565566 | 7.46 (2.48 to 22.4) |
| 15 | ZNF646 | 4/362:2_mask1|1_mask3m|1_mask5m | 15/3740:2_mask3m|4_mask4m| 9_mask5m |
3.27E-05 | 0.021565566 | 8.94 (1.95 to 41) |
| 16 | RP11-618P17.4 | 5/362:1_mask1|1_mask2m|2_mask4m|1_mask5m | 11/3740:1_mask1|2_mask4m|1_mask5 |7_mask5m |
3.32E-05 | 0.021565566 | 10.7 (2.13 to 54.2) |
| 17 | AKR1B15 | 4/362:2_mask1|2_mask5m | 3/3740:1_mask2|2_mask5m | 3.61E-05 | 0.022628051 | 18.7 (2.53 to 138) |
| 18 | GALE | 9/362:1_mask1|6_mask2m|1_mask3m|1_mask5m | 31/3740:1_mask1|2_mask2|9_mask2m| 7_mask3m|3_mask4m|9_mask5m |
4.51E-05 | 0.026951593 | 4.63 (1.88 to 11.4) |
| 19 | IL17RB | 3/362:2_mask1|1_mask2 | 4/3740:1_mask1|1_mask2| 2_mask5m |
5.28E-05 | 0.028204272 | 13.7 (2.64 to 71.2) |
| 20 | KCNC2 | 3/362:2_mask2|1_mask5m | 6/3740:3_mask4m|3_mask5m | 5.35E-05 | 0.028204272 | 13.4 (1.81 to 99.5) |
The table shows the top 20 genes identified in the analysis, along with the minor allele counts and variant mask levels for each gene. OR was calculated for AIS cases versus in-house controls. The original p values were calculated using the weighted burden test and were adjusted for multiple comparisons using the Benjamini-Hochberg FDR method.
FDR, false discovery rate.