Table 2. eQTLs linked to Alzheimer’s disease GWAS loci:
eGenes and variants from an eQTL analysis of temporal cortex pyramidal neuron-enriched population from human Alzheimer’s disease and control patients. P-value from meta-analysis across 1087 human Alzheimer’s disease and control patients across 7 previously published studies is also reported. Beta coefficient indicates the association between gene expression of the eGene and presence of Alzheimer’s disease. Chromosomal coordinates are reported according to the human genome reference hg19 and the hypothetical gene is the variant reported in Jansen et al. 2019 for that particular locus11.
| Chromosome:base pair position (hg19) | Previously nominated GWAS candidate | eGene | eQTL | Ref/alt allele | P | Fixed effects regression coefficient |
|---|---|---|---|---|---|---|
| 6:32626139 | HLA-DRB1 | C4A | rs6905975 | C:G | 1.53E-02 | −0.319 |
| 8:27400592 | CLU/PTK2B | EPHX2 | rs66924402 | A:C | 4.63E-02 | 0.170 |
| 6:32627485 | HLA-DRB1 | HLA-DQA1 | rs9273432 | T:C | 3.69E-02 | −0.414 |
| 6:32608251 | HLA-DRB1 | HLA-DQA2 | rs28383408 | C:G | 9.15E-03 | 0.428 |
| 6:32628030 | HLA-DRB1 | HLA-DQB1 | rs9273471 | G:A | 2.49E-03 | −0.866 |
| 6:32608820 | HLA-DRB1 | HLA-DQB1-AS1 | rs9272670 | C:T | 3.35E-02 | −0.390 |
| 6:32663564 | HLA-DRB1 | HLA-DQB2 | rs5000634 | A:G | 3.95E-05 | 0.690 |
| 6:32579035 | HLA-DRB1 | HLA-DRB1 | rs9271209 | G:A | 6.94E-07 | −0.686 |
| 6:32574990 | HLA-DRB1 | HLA-DRB5 | rs9271025 | T:C | 5.80E-04 | −0.791 |
| 16:31154146 | KAT8 | PRSS36 | rs1549299 | G:A | 3.04E-02 | −0.393 |
| 7:100190116 | ZCWPW1 | PVRIG | rs2734895 | T:C | 2.99E-02 | −0.446 |
| 6:47413226 | CD2AP | RP11–385F7.1 | rs6934735 | A:T | 4.43E-02 | −0.333 |