Table 1.
COPD genes identified in the Sherlock analysis
| Gene symbol | Total LBF score | Sherlock p value | Differentially expressed probe (p < 0.05) | Differentially methylated site (p < 0.05, effect > 5%) | GTEx V7 (cis-only, LBF score) | GTEx V7 (cis-only, p value) |
|---|---|---|---|---|---|---|
| MAPT | 7.65 | 6.91E-07 | Yes | No | 7.31 | 6.41E-07 |
| LRRC37A4 | 7.46 | 6.91E-07 | No | No | 2.13 | 1.8E-3 |
| C17orf69 | 7.38 | 6.91E-07 | Yes | No | 2.39 | 1.3E-3 |
| IREB2 * | 6.40 | 6.91E-07 | No | No | 4.37 | 5.89E-05 |
| C19orf54 * | 5.45 | 5.53E-06 | No | No | 5.01 | 1.79E-05 |
| ACVR1B * | 5.40 | 5.53E-06 | No | Yes | 4.77 | 2.82E-05 |
| EIF3CL * | 4.45 | 1.94E-05 | No | No | N/A | N/A |
| TUFM * | 4.29 | 2.49E-05 | Yes | No | 5.31 | 8.97E-06 |
| FAM13A | 4.09 | 3.60E-05 | No | No | 5.69 | 3.84E-06 |
| PCBP2 | 3.97 | 4.43E-05 | No | No | N/A | N/A |
| CYP2B7 * | 3.87 | 5.67E-05 | No | No | N/A | N/A |
| SULT1A1 * | 3.81 | 6.08E-05 | Yes | No | 5.38 | 8.97E-06 |
| SULT1A2 * | 3.80 | 6.08E-05 | Yes | Yes | 5.01 | 1.79E-05 |
| TIGD2 | 3.58 | 7.88E-05 | No | No | 2.48 | 1.10E-03 |
| CHRNA5 * | 3.37 | 1.05E-04 | No | No | 5.27 | 1.15E-05 |
| BZRAP1 | 3.27 | 1.20E-04 | No | Yes | −0.20 | 7.28E-01 |
| GPX8 * | 3.25 | 1.20E-04 | No | No | N/A | N/A |
| TEKT3 | 3.19 | 1.31E-04 | No | No | 0.00 | 1.59E-01 |
| SNRPB | 3.06 | 1.63E-04 | No | No | 0.00 | 1.61E-01 |
| ZNF652 | 3.03 | 1.69E-04 | No | No | −0.02 | 2.69E-01 |
| AHSA2 * | 2.86 | 2.14E-04 | No | No | 2.22 | 1.63E-03 |
| CDH23 | 2.82 | 2.21E-04 | No | Yes | 0.01 | 1.38E-01 |
| NOP2 | 2.69 | 2.99E-04 | No | No | N/A | N/A |
| AASDH | 2.68 | 3.06E-04 | No | No | 2.45 | 1.14E-03 |
| DAGLA | 2.68 | 3.06E-04 | No | No | N/A | N/A |
| IFI27L2 * | 2.65 | 3.24E-04 | No | No | 2.90 | 5.98E-04 |
| APIP | 2.60 | 3.48E-04 | No | No | 2.52 | 1.03E-03 |
| AXIN2 | 2.59 | 3.55E-04 | No | No | −0.04 | 4.10E-01 |
| WDR47 | 2.49 | 4.20E-04 | Yes | No | N/A | N/A |
| C4orf33 | 2.41 | 4.74E-04 | No | No | 1.68 | 3.71E-03 |
| HNRNPAB | 2.34 | 5.23E-04 | No | No | N/A | N/A |
| GFPT1 | 2.33 | 5.24E-04 | Yes | No | −0.02 | 2.04E-01 |
| LOC644172 | 2.32 | 5.30E-04 | No | No | N/A | N/A |
| SNORD25 | 2.25 | 5.86E-04 | No | No | N/A | N/A |
| PPAT | 2.23 | 6.06E-04 | Yes | No | −0.03 | 3.22E-01 |
| FBRSL1 | 2.23 | 6.08E-04 | No | No | −0.09 | 5.90E-01 |
| FSTL5 | 2.22 | 6.14E-04 | No | No | N/A | N/A |
| SMG6 | 2.18 | 6.44E-04 | No | Yes | −0.01 | 1.85E-01 |
| CHIAP2 | 2.09 | 7.58E-04 | No | No | N/A | N/A |
| RPL23A | 2.07 | 7.77E-04 | Yes | No | N/A | N/A |
| C2orf74 * | 2.06 | 7.85E-04 | No | No | N/A | N/A |
| CTSH | 2.04 | 8.17E-04 | No | No | 1.40 | 5.59E-03 |
| UBE2J1 | 2.03 | 8.27E-04 | Yes | No | N/A | N/A |
| AEN | 2.01 | 8.50E-04 | No | No | 0.36 | 3.61E-02 |
| CUL1 | 2.00 | 8.88E-04 | No | No | −0.02 | 3.02E-01 |
| DSP | 2.00 | 8.91E-04 | No | No | 1.51 | 4.77E-03 |
| MYCN | 1.97 | 9.32E-04 | No | No | −0.04 | 4.13E-01 |
| TRIM4 | 1.96 | 9.43E-04 | Yes | No | 1.57 | 4.37E-03 |
| ZNF57 | 1.94 | 9.64E-04 | No | No | −0.02 | 2.16E-01 |
| NARS2 | 1.94 | 9.74E-04 | No | No | 2.89 | 6.10E-04 |
LBF logarithm of Bayes factor
*Gene identified in the cis-eQTL-GWAS intersection in (Additional file 1: Table S4)