Table 2:
COLOC and SMR analysis of the 13 significant genes in the discovery AD PWAS. Eleven genes had evidence consistent with a causal role by either COLOC or SMR.
| COLOC | SMR | ||||||
|---|---|---|---|---|---|---|---|
| Gene | Chr | H4 | Causal variant | SMR.p | HEIDI.p | Causal variant | |
| 1 | CTSH | 15 | 0.962 | yes | 3.1×10−5 | 0.464 | yes |
| 2 | DOC2A | 16 | 0.907 | yes | 1.0×10−3 | 0.742 | yes |
| 3 | ICA1L | 2 | 0.672 | yes | 4.1×10−4 | 0.977 | yes |
| 4 | LACTB | 15 | 0.754 | yes | 3.8×10−4 | 0.070 | yes |
| 5 | PLEKHA1* | 10 | 0.581 | yes | 3.0×10−3 | 0.455 | yes |
| 6 | SNX32 | 11 | 0.975 | yes | 2.7×10−5 | 0.588 | yes |
| 7 | STX4* | 16 | 0.918 | yes | 5.0×10−3 | 0.808 | yes |
| 8 | ACE | 17 | 0.976 | yes | 4.0×10−3 | 0.039 | no |
| 9 | RTFDC1 | 20 | 0.643 | yes | 4.6×10−5 | 0.034 | no |
| 10 | CARHSP1 | 16 | 0.188 | no | 1.2×10−2 | 0.397 | yes |
| 11 | STX6 | 1 | 0.072 | no | 1.0×10−2 | 0.748 | yes |
| 12 | EPHX2 | 8 | 0 | no | 7.1×10−7 | 0.008 | no |
| 13 | PVR* | 19 | 0.022 | no | 1.4×10−5 | n/a | n/a |
For the 13 FDR-significant genes in the discovery AD PWAS, the result of COLOC H4, which is the Bayesian posterior probability that a genetic variant is shared by both traits (i.e., gene and AD), and P values for SMR and SMR HEIDI tests are given.
Asterisk denotes genes not found in the confirmatory PWAS. n/a (not applicable) indicates undetermined result since the number of pQTL SNPs were too small for HEIDI to test. Genes were sorted by whether they are consistent with being a causal variant.