Table 3.
Results of Small-Vessel-Subtype Gene-Burden and Pathway-Analyses.
| Top five associations in Gene-based Analyses | |||||
|---|---|---|---|---|---|
| Gene | P | Beta | SE | SNPs per Gene | NAT10 SNPs included |
| NAT10* | 3.79E-06 | 2.074 | 0.45 | 23 | rs140188192, rs201730594, rs35674959, rs139800295, rs148211973, rs2957516, rs146685334, rs138988892, rs142148595, rs139767479, rs149555377, rs199661193, rs200962843, rs145242316, rs145482727, rs137942423, rs151223396, rs140934116, rs142960948, rs36006049, rs143930117, rs200149938, rs139546360 |
| CHST5 | 7.90E-05 | −0.650 | 0.17 | 12 | |
| APOPT1 | 1.29E-04 | −1.297 | 0.34 | 3 | |
| PIKFYVE | 2.35 E-04 | −0.2904 | 0.08 | 31 | |
| KDM4C | 3.39 E-04 | −0.338 | 0.09 | 26 | |
| Pathway Analysis Results: Based on 517 genes from small-vessel gene-burden test results as filtered by p-value threshold <0.05. | ||
|---|---|---|
| Signaling Pathways | P | Molecules |
| FXR/RXR-Activation | 2.9E-03 | FOXA1; SERPINF1; MLXIPL; FETUB; APOF; A1BG; PLTP; MTTP |
| Glutamate-Receptor-Signaling | 2.3E-02 | GRID2; GRM5; SLC17A2; GRIN3A |
| LXR/RXR-Activation | 2.8E-02 | NOS2; SERPINF1; MLXIPL; APOF; A1BG; PLTP |
| Fcγ-Receptor-mediated-Phagocytosis-in-Macrophages-and-Monocytes | 3.2E-02 | CSF2; PRKCQ; FYB1; DOCK1; VAV2 |
| Antigen-Presentation-Pathway | 3.5E-02 | TAPBP; HLA-DRA; PSMB8 |
| Notch-Signaling | 3.5E-02 | APH1B; MAML2; FURIN |
| Cardiolipin-BiosynthesisII | 3.8E-02 | PGS1 |
*
Significant at exome-wide p-value-threshold<4.75E-6.