Table 5.
Association of pQTLs for 6 proteins associated with incident HF
| Protein | Sentinel variant |
Variant position (Chr: position) |
Nearest gene (distance in kb) |
Context of variant and cognate gene (<1Mb) |
Coded/ non- coded allele |
Coded allele freq |
Effect on protein conc, β est (SE) |
P-value | Trait/ outcome |
Effect on trait, β est (SE) |
P-value |
|---|---|---|---|---|---|---|---|---|---|---|---|
| NT-proBNP | rs1053094 | 4:187370025 | CYP4V2 | Trans | a/t | 0.52 | 0.12 (0.03) | 5.7E-05 | LVM | −0.97 (0.28) | 0.0005 |
| ErbB1 | rs6886790 | 5:71883623 | ZNF366 (44.6) | Trans | t/c | 0.99 | 0.49 (0.12) | 6.1E-05 | LVWT | 0.04 (0.01) | 0.0004 |
| MBL | rs1343066 | 10:54346676 | MBL2 (145.2) | Cis | a/g | 0.04 | −0.68 (0.11) | 1.2E-09 | LVDD | 0.07 (0.02) | 0.0003 |
| rs10824831 | 10:54323460 | MBL2 (121.9) | Cis | a/g | 0.93 | 0.32 (0.06) | 6.1E-09 | LVM | 2.09 (0.55) | 0.0001 | |
| TSP2 | rs1485399 | 12:30140155 | TMTC1 (311.2) | Trans | t/c | 0.52 | −0.10 (0.03) | 9.6E-05 | FS | −0.16 (0.04) | 0.0004 |
| rs9717605 | 6:169394317 | THBS2 (0) | Cis | c/g | 0.26 | 0.30 (0.03) | 1.1E-24 | LAD | −0.02 (0.00) | 8.0E-06 | |
| RGMC | rs2543093 | 8:97077606 | LOC100500773 (47.9) | Trans | t/c | 0.89 | −0.22 (0.05) | 1.1E-06 | LAD | 0.02 (0.01) | 0.0003 |
| RGMC | rs6675509 | 1:167309685 | ATP1B1 (33) | Trans | a/c | 0.54 | 0.11 (0.05) | 8.1E-05 | HF | 0.09 (0.03) | 0.001 |
Abbreviations: NT-proBNP, N-terminal proB-type natriuretic peptide; ErbB1, epidermal growth factor receptor; MBL, mannose-binding lectin; TSP2, thrombospondin-2; RGM-C, hemojuvelin
No statistically significant associations were noted between pQTLs and echocardiographic traits or HF for the proteins not listed