Table 1.
Associations with WHRadjBMI in the exome-wide gene burden analysis.
| Gene | Variant set | Gene coordinates (hg38) | P | Beta (95% CI) in SD units of WHRadjBMI | N (carriers|non-carriers) |
|---|---|---|---|---|---|
| PDE3B | pLOF | 11:14643691-14874139 | 2.17 × 10−17 | −0.26 (−0.32, −0.2) | 1020|361659 |
| PYGM | pLOF | 11:64746389-64760715 | 8.75 × 10−8 | 0.09 (0.06, 0.13) | 3363|359316 |
| INHBE | pLOF+missense | 12:57455291-57458013 | 2.01 × 10−8 | −0.18 (−0.25, −0.12) | 914|361765 |
| INHBE | pLOF | 12:57455291-57458013 | 4.98 × 10−8 | −0.22 (−0.30, −0.14) | 618|362061 |
| PLIN1 | pLOF | 15:89664365-89679417 | 2.12 × 10−20 | −0.35 (−0.43, −0.28) | 681|361998 |
| PLIN1 | pLOF+missense | 15:89664365-89679417 | 4.82 × 10−14 | −0.11 (−0.14, −0.081) | 4720|357959 |
| ANKRD12 | pLOF | 18:9136753-9285985 | 3.02 × 10−7 | 0.31 (0.19, 0.43) | 261|362418 |
| PLIN4 | pLOF | 19:4502180-4520285 | 1.84 × 10−9 | 0.13 (0.091, 0.18) | 1961|360718 |
| PLIN4 | pLOF+missense | 19:4502180-4520285 | 1.97 × 10−9 | 0.13 (0.086, 0.17) | 2199|360480 |
| INSR | pLOF | 19:7112255-7294405 | 1.05 × 10−7 | −0.45 (−0.62, −0.29) | 135|362544 |
| COL5A3 | pLOF | 19:9959561-10010532 | 4.20 × 10−7 | 0.23 (0.14, 0.32) | 479|362200 |
| KEAP1 | pLOF+missense | 19:10486120-10503378 | 1.16 × 10−8 | 0.25 (0.16, 0.33) | 520|362159 |
| KEAP1 | missense | 19:10486120-10503378 | 2.58 × 10−8 | 0.25 (0.16, 0.34) | 477|362202 |
| ACVR1C | missense | 2:157526767-157628887 | 6.24 × 10−10 | −0.14 (−0.19, −0.097) | 1892|360787 |
| ACVR1C | pLOF+missense | 2:157526767-157628887 | 7.10 × 10−10 | −0.14 (−0.18, −0.095) | 1923|360756 |
| SLC5A3 | missense | 21:34073523-34106262 | 1.93 × 10−8 | 0.072 (0.047, 0.097) | 6141|356538 |
| TRIM40 | pLOF+missense | 6:30135998-30148773 | 6.99 × 10−7 | 0.074 (0.045, 0.10) | 4443|358236 |
Association testing was performed in 362,679 European ancestry individuals using a generalized linear model adjusting for the first 30 principal components of genetic ancestry. Variant sets significantly associating with WHRadjBMI are shown (P ≤ 1.05 × 10−6; Bonferroni correcting for the number of genes and variant masks tested).