Table 3.
Association of genotypic risk scores with AAD
| Trait | Chr | Start (HG38) | End (HG38) | Type | Effect | P |
|---|---|---|---|---|---|---|
| Methylation* (probe location in HG38) | ||||||
| cg17270013 (Chr15:78,944,497) | 15 | 78,185,519 | 79,036,756 | cis | −0.10 | 4.61E-06 |
| cg07448499 (Chr15:78,944,815) | 15 | 78,185,519 | 79,036,756 | cis | −0.08 | 5.62E-05 |
| cg17922215 (Chr15:78,944,803) | 15 | 78,388,660 | 79,012,268 | cis | −0.08 | 9.20E-05 |
| cg20059407 (Chr15: 78,941,976) | 15 | 78,796,769 | 78,965,955 | cis | −0.07 | 3.99E-04 |
| cg25744700 (Chr15:78,944,875) | 15 | 77,955,110 | 79,019,093 | cis | −0.07 | 6.89E-04 |
| Expression† | ||||||
| Whole blood (eQTLGen) | 15 | 77,974,313 | 79,068,033 | cis | −0.08 | 2.93E-04 |
| Protein levels‡ | ||||||
| Pro-cathepsin H | 6 | 31,483,699 | 33,225,090 | trans | −2.01 | 4.44E-05 |
| Pro-cathepsin H | 15 | 67,936,125 | 88,137,453 | cis | −0.07 | 6.41E-03 |
*Methylation probes on HumanMethylation450 and EPIC arrays corresponding to CpG island in CTSH locus: Chr15:78944698–78945229.
†RNA sequencing and arrays meta-analysis for eQTLGen.
‡Pro-cathepsin H protein levels measured in plasma with SomaScan version 3.