Table 2. Gene-level burden analysis of clear cell and non-clear cell RCCs.
Test statistics from the generalized linear model for genes with nominal enrichment. Genes with adjusted p-value less than 0.05 were considered significant and highlighted. A table of results for all genes tested can be found in eTables 7 and 8
| Gene/Variant | FDR_Adjusted_p-value | p-value | Odds_ratio | OR_95CI_low | OR_95CI_high | case_PV_carrier | control_PV_carrier | |
|---|---|---|---|---|---|---|---|---|
|
| ||||||||
| Clear Cell RCC | VHL | 0.00584 | 4.95E-05 | 39.1 | 7.01 | 218.07 | 4 | 2 |
| CHEK2 _Ser428Phe | 0.0227 | 0.000385 | 31.96 | 6.23 | 163.89 | 3 | 3 | |
| SDHD | 0.506 | 0.0141 | 1.72E+10 | 0 | inf | 1 | 0 | |
| BAP1 | 0.526 | 0.0314 | 5.57 | 1.44 | 21.52 | 3 | 9 | |
| CHEK2 _Ile157Thr | 0.526 | 0.0356 | 2.04 | 1.11 | 3.73 | 12 | 122 | |
|
| ||||||||
| Non Clear Cell RCC | FH | 1.83E-06 | 1.55E-08 | 77.9 | 18.68 | 324.97 | 6 | 3 |
| MET | 2.07E-05 | 3.50E-07 | 1.98E+11 | 0 | inf | 3 | 0 | |
| LZTR1 | 0.244 | 0.00619 | 4.96 | 1.92 | 12.85 | 5 | 42 | |
| PMS2 | 0.653 | 0.0241 | 5.58 | 1.65 | 18.84 | 3 | 25 | |
| MITF | 0.653 | 0.0277 | 3.38 | 1.34 | 8.53 | 5 | 62 | |
| CHEK2 _Ser428Phe | 0.707 | 0.036 | 27.73 | 2.78 | 276.8 | 1 | 3 | |
| EXT2 | 0.79 | 0.0483 | 22.36 | 2 | 250.27 | 1 | 2 | |