Table 4.
Burden of loss-of-function and missense variants
| OR (95% CI) | P | P het | ||
|---|---|---|---|---|
| Postmenopausal | Nonvertebral fracture | 1.05 (0.83 to 1.32) | .68 | .58 |
| Osteoporotic fracture | 1.19 (1.05 to 1.35) | .008 | .38 | |
| Vertebral fracture | 0.69 (0.34 to 1.39) | .30 | .77 | |
| Hip fracture | 0.91 (0.55 to 1.50) | .71 | .71 | |
| All | Any type of fracture | 1.03 (0.99 to 1.08) | .19 | .40 |
| Forearm/wrist fracture | 1.04 (0.95 to 1.14) | .40 | .31 | |
| Hip fracture | 1.30 (1.03 to 1.64) | .03 | .92 | |
| Vertebral fracture | 1.16 (0.98 to 1.38) | .09 | .37 | |
| Effect (95% CI) | P | P het | ||
| BMI and BMD | BMI | −0.110 (−0.139 to −0.081) | 4.6E-14 | .19 |
| Femoral neck BMD | 0.020 (−0.055 to 0.095) | .60 | ≥.999 | |
| Lumbar spine BMD | 0.000 (0.000 to 0.000) | .95 | .89 | |
| Total body BMD | 0.010 (−0.094 to 0.114) | .85 | .87 | |
| eBMD | −0.061 (−0.098 to −0.024) | .001 | na |
Results from burden test that includes predicted loss-of-function variants in GIPR and missense variants that are predicted to be deleterious to the protein. Results from the individual sample sets and for predicted loss of function variants only are shown in Supplementary Table S5 (12), and burden test characteristics per sample set are shown in Supplementary Table S6 (12). Shown are fracture types in postmenopausal women, and in all individuals irrespective of age and sex, along with ORs and 95% CIs. For BMI and BMD phenotypes, the effect is shown in SDs. Phet is the heterogeneity P value.
Abbreviations: BMD, bone mineral density; BMI, body mass index; eBMD, BMD estimated from heel ultrasound; OR, odds ratio; SNV, single-nucleotide variation.