Table 3 Significant WES-WGS SKAT meta-analysis results for genes enriched for PAVs (p<2.9×10−6) or PTVs (p<1×10−5) using SKAT or VT algorithms
| Â | Â | Â | Â | SKAT | VT | ||||
|---|---|---|---|---|---|---|---|---|---|
GENE | Type | Pheno | N | Nvar | PLiu | Nvar | MAF cutoff | Effect | P |
DEFT1P | PTV | VLDLPL XL | 445 | 1 | 1.23×10−6 | 1 | 0.020 | 1.157 | 1.23×10−6 |
SBDS | PTV | apoC-III | 617 | 2 | 5.37×10−6 | 2 | 0.005 | 1.692 | 1.86×10−5 |
LIPC | PAV | apoA1 | 918 | 6 | 1.48×10−7 | 4 | 0.017 | 1.004 | 2.12×10−8 |
GTF3C5 | PAV | Non-HDLC | 919 | 8 | 6.86×10−7 | 8 | 0.007 | −0.536 | 0.014 |
|  |  | LDL Friedewald | 920 | 8 | 9.27×10−7 | 8 | 0.007 | −0.705 | 1.35×10−3 |
|  |  | Total cholesterol | 920 | 8 | 1.30×10−6 | 8 | 0.007 | −0.522 | 0.016 |
TRMT5 | PAV | VLDLPL XS | 738 | 8 | 7.87×10−7 | 8 | 0.007 | −0.985 | 3.20×10−7 |
RBM47 | PAV | apoC-III | 617 | 3 | 1.33×10−6 | 3 | 0.005 | −1.228 | 7.20×10−4 |
RYR3 | PAV | VLDLTG XS | 748 | 25 | 1.30×10−4 | 24 | 0.009 | 0.530 | 2.08×10−6 |
MARCH10 | PAV | VLDLPL XS | 748 | 5 | 1.14×10−5 | 4 | 0.003 | −1.498 | 2.24×10−6 |