Table 2 Joint variant test (SKAT-O) result for the 41 genes within the NOD signaling pathway in which variations was found across the entire discovery cohort.
From: Exome Analysis of Rare and Common Variants within the NOD Signaling Pathway
Gene | Chromosome | bp position (hg19) | Total number of samples (136 cases; 106 controls) | Fraction of individuals who carry rare variants under the MAF thresholds (MAF < 0.05)* | Number of all variants defined in the group file | Number of variant defined as rare (MAF < 0.05)* | P-value unadjusted |
|---|---|---|---|---|---|---|---|
BIRC2 | 11 | 102220918–102248410 | 242 | 0.07851 | 6 | 6 | 0.004 |
NFKB1 | 4 | 103488139–103537672 | 242 | 0.11983 | 10 | 9 | 0.005 |
NOD2 | 16 | 50733392–50763778 | 242 | 0.21488 | 31 | 25 | 0.029 |
SUGT1 | 13 | 53231709–53261936 | 242 | 0.33058 | 6 | 5 | 0.047 |
MAPK11 | 22 | 50703796–50706381 | 242 | 0.07024 | 7 | 5 | 0.061 |
CARD6 | 5 | 40841561–40853404 | 242 | 0.0909 | 10 | 8 | 0.074 |
BIRC3 | 11 | 102195774–102201850 | 242 | 0.05371 | 6 | 6 | 0.075 |
TAB2 | 6 | 149699333–149730846 | 242 | 0.07024 | 6 | 6 | 0.117 |
IKBKB | 8 | 42128942–42188489 | 242 | 0.06198 | 6 | 6 | 0.249 |
ERBB2IP | 5 | 65307924–65372200 | 242 | 0.17355 | 13 | 9 | 0.292 |
CASP8 | 2 | 202122956–202149864 | 242 | 0.0909 | 8 | 6 | 0.319 |
MAPK12 | 22 | 50691870–50699668 | 242 | 0.19835 | 16 | 13 | 0.35 |
TAB3 | X | 30849697–30877801 | 242 | 0.02066 | 5 | 4 | 0.362 |
CHUK | 10 | 101964267–101980355 | 242 | 0.02892 | 6 | 4 | 0.38 |
TNFAIP3 | 6 | 138196066–138202378 | 242 | 0.06198 | 7 | 7 | 0.653 |
NOD1 | 7 | 30487954–30496518 | 242 | 0.08264 | 17 | 13 | 0.657 |
TRIP6 | 7 | 100465128–100469223 | 242 | 0.07438 | 11 | 9 | 0.783 |
TAB1 | 22 | 39795831–39832516 | 242 | 0.02479 | 7 | 6 | 0.795 |
MAPK13 | 6 | 36098410–36107131 | 242 | 0.02892 | 9 | 8 | 0.799 |
RIPK2 | 8 | 90770315–90802611 | 242 | 0.07438 | 5 | 4 | 0.803 |
CARD9 | 9 | 139258615–139266519 | 242 | 0.16942 | 12 | 10 | 0.866 |
