Table 3.
Correlation of geneset enrichment scores between EWAS and GWAS
| trait | n EWAS genes | n GWAS genes | Geneset overlap | obs cor | exp cor | p diff |
|---|---|---|---|---|---|---|
| Body mass index | 232 | 3,228 | 1,243 | 0.187 | 0.20 | 0.2287 |
| Current versus never smoking | 1933 | 312 | 1,053 | 0.200 | 0.22 | 0.0343 |
| Former versus never smoking | 282 | 323 | 661 | 0.298 | 0.30 | 0.9936 |
| Alcohol consumption per day | 361 | 190 | 562 | 0.259 | 0.27 | 0.5753 |
| C-reactive protein | 189 | 302 | 600 | 0.265 | 0.26 | 0.7983 |
| Educational attainment | 25 | 1,594 | 215 | 0.105 | 0.13 | 0.1729 |
| Fasting glucose | 15 | 50 | 50 | 0.153 | 0.16 | 0.7723 |
| Fasting insulin | 36 | 5 | 19 | 0.093 | 0.12 | 0.4400 |
| Systolic blood pressure | 99 | 3,210 | 631 | 0.145 | 0.14 | 0.7679 |
| Diastolic blood pressure | 56 | 3586 | 594 | 0.160 | 0.11 | 0.0013 |
| Birthweight | 894 | 162 | 683 | 0.224 | 0.24 | 0.2476 |
| Cognitive abilities: digit test | 26 | 875 | 198 | 0.164 | 0.14 | 0.2064 |
| FEV1 | 51 | 1,664 | 403 | 0.158 | 0.14 | 0.1948 |
| eGFR | 256 | 2611 | 1,264 | 0.233 | 0.20 | 0.0332 |
| Urate | 251 | 666 | 877 | 0.306 | 0.27 | 0.0414 |
For each geneset, odds of study genes being in the geneset divided by the odds of the study genes not being in the geneset were assessed and correlation between these odds ratios are given here.
exp cor = the mean correlation between odds ratios after repeating the analysis 1000 times, randomly sampling EWAS genes equal to the number identified in the empirical analysis.
geneset overlap indicates the number of gene ontology terms that map to both genes identified by the EWAS and GWAS.
p diff = P value from a two-sided Z-test assessing the difference between the observed and expected correlations.