Table 1.
Genetic pleiotropy and enrichment of functional deleteriousness among genetic loci associated with birth weight and childhood obesity traits.
| Trait pair | Annotation | Genetic pleiotropy | Functional annotation enrichment | ||
|---|---|---|---|---|---|
| Enrichment fold (s.e) | P value | q11/q00 (s.e) | P value | ||
| BWEU and CBMI | CADD | 2.683 (0.05) | 1.17 × 10–277 | 1.69 (0.08) | 2.69 × 10–38 |
| eQTLs | 2.679 (0.05) | 1.18 × 10–277 | 2.10 (0.04) | ≤ 1 × 10–300 | |
| DHSs | 2.67 (0.05) | 2.52 × 10–276 | 1.17 (0.01) | ≤ 1 × 10–300 | |
| TFBS | 2.685 (0.05) | 1.18 × 10–277 | 1.09 (0.03) | 0.03 | |
| BWEU and COB | CADD | 5.413 (0.19) | 9.79 × 10–144 | 1.54 (0.18) | 1.42 × 10–27 |
| eQTLs | 5.396 (0.29) | 9.79 × 10–144 | 1.73 (0.09) | ≤ 1 × 10–300 | |
| DHSs | 5.379 (0.24) | 1.45 × 10–143 | 1.15 (0.03) | ≤ 1 × 10–300 | |
| TFBS | 5.383 (0.24) | 9.79 × 10–144 | 1.01 (0.06) | 0.21 | |
| BWTR and CBMI | CADD | 2.653 (0.05) | 9.97 × 10–274 | 1.79 (0.08) | 1.62 × 10–39 |
| eQTLs | 2.648 (0.05) | 9.98 × 10–271 | 2.15 (0.04) | ≤ 1 × 10–300 | |
| DHSs | 2.641 (0.05) | 2.18 × 10–269 | 1.17 (0.02) | ≤ 1 × 10–300 | |
| TFBS | 2.655 (0.05) | 9.98 × 10–271 | 1.10 (0.03) | 0.01 | |
| BWTR and COB | CADD | 5.209 (0.17) | 3.51 × 10–127 | 1.68 (0.18) | 1.94 × 10–29 |
| eQTLs | 5.204 (0.18) | 3.51 × 10–127 | 1.80 (0.10) | ≤ 1 × 10–300 | |
| DHSs | 5.186 (0.20) | 6.52 × 10–127 | 1.12 (0.03) | ≤ 1 × 10–300 | |
| TFBS | 5.197 (0.18) | 3.51 × 10–127 | 0.99 (0.07) | 0.04 | |
q11/q00 is the ratio of the probability of jointly associated SNPs being functionally annotated to the probability of a null SNP (not associated with either trait) being functionally annotated.
BWEU and CBMI European birth weight and childhood body mass index, BWEU and COB European birth weight and childhood obesity, BWTR and CBMI trans-ethnic birth weight and childhood body mass index, BWTR and COB trans-ethnic birth weight and childhood obesity, CADD combined annotation dependent depletion, eQTLs expression quantitative loci, DHSs DNase I hypersensitivity sites, TFBS transcription factor binding sites.