Table 1 (a) Associations for rs7741021 in the RSPO3 locus (C-allele = effect allele). (b) Associations for rs3734626 in the RSPO3 locus (T-allele = effect allele). (c) Associations for rs2489623 in the RSPO3 locus (C-allele = effect allele).

From: RSPO3 is important for trabecular bone and fracture risk in mice and humans

Trait	EAF	OR	95% CI	P -value	No. of cases	No. of controls	Source
(a)
*Fractures*
Fracture at any bone site	0.47	0.95	(0.94–0.96)	8.9E−65	421,084	737,530	Morris et al. (Table S4)⁸
Distal forearm fractures	0.48	0.88	(0.86–0.91)	9.6E−14	7,324	431,432	New analyses in UK Biobank
Hip fractures	0.48	0.94	(0.90–0.98)	4.4E−03	4,035	434,902	New analyses in UK Biobank
*Bone parameters*	EAF	Beta	SE	P-value	No. of total		Source
eBMD	0.48	0.079	0.002	5.6E−336	426,824		Morris et al. ⁸
Trabecular vBMD	0.48	0.088	0.028	1.4E−03	2,500		Paternoster et al. ³⁴
Cortical vBMD	0.48	−0.013	0.015	4.1E−01	5,878		Paternoster et al. ³⁴
Cortical thickness	0.48	0.012	0.017	4.8E−01	5,878		Zheng et al. ⁹
*eQTL*	EAF	Beta	SE	P value	No. of total		Source
RSPO3 mRNA in adipose tissue	0.44	0.15*		2.4E−04	581		GTEx portal
RSPO3 mRNA in fibroblasts	0.46	0.12*		1.8E−04	483		GTEx portal

(b)
*Fractures*
Fracture at any bone site	0.53	0.94	(0.93–0.95)	1.8E−20	53,184	426,795	Morris et al. ⁸
Distal forearm fractures	0.52	0.89	(0.86–0.92)	2.4E−12	7,324	431,432	New analyses in UK Biobank
Hip fractures	0.52	0.95	(0.91–0.99)	1.4E−02	4,035	434,902	New analyses in UK Biobank
*Bone parameters*	EAF	Beta	SE	P value	No. of total		Source
eBMD	0.53	0.069	0.002	1.9E−258	426,824		Morris et al. ⁸
Trabecular vBMD	0.51	0.092	0.028	9.4E−04	2,500		Paternoster et al. ³⁴
Cortical vBMD	0.52	−0.010	0.015	5.0E−01	5,878		Paternoster et al. ³⁴
Cortical thickness	0.52	0.015	0.017	3.7E−01	5,878		Zheng et al. ⁹
*cis-pQTL*	EAF	Beta	SE	P value	No. of total		Source
Circulating RSPO3	0.56	0.325	0.023	1.8E−45	3,200		Emilsson et al. (Table S13)³³

(c)
Fractures
Fracture at any bone site	0.54	0.95	(0.94–0.96)	1.0E−14	53,184	426,795	Morris et al. ⁸
Distal forearm fractures	0.53	0.89	(0.86–0.92)	8.5E–13	7,324	431,432	New analyses in UK Biobank
Hip fractures	0.53	0.96	(0.92–1.01)	1.1E–01	4,035	434,902	New analyses in UK Biobank
Bone parameters	EAF	Beta	SE	P value	No. of total		Source
eBMD	0.54	0.061	0.002	6.6E−205	426,824		Morris et al. ⁸
Trabecular vBMD	0.53	0.084	0.028	2.4E−03	2,500		Paternoster et al. ³⁴
Cortical vBMD	0.53	0.020	0.015	2.0E−01	5,878		Paternoster et al. ³⁴
Cortical thickness	0.53	0.016	0.017	3.5E−01	5,878		Zheng et al. ⁹
cis-pQTL	EAF	Beta	SE	P value	No. of total		Source
RSPO3	0.53	0.270	0.025	3.6E−28	3,301		Sun et al, (Table S4)³⁵

(a) Betas are given in SD (or ORs) per effect allele (=C-allele). *The effect sizes for the eQTLs are given as normalized effect size according to the GTEx portal (https://gtexportal.org/home). eBMD = estimated bone mineral density measured by ultrasound in the heel. Trabecular vBMD = Trabecular volumetric BMD as measured by pQCT in the distal tibia metaphysis. Cortical vBMD = Cortical volumetric BMD as measured by pQCT in the tibia diaphysis. Cortical thickness = Cortical thickness measured by pQCT in the diaphysis of tibia. eQTL = expression quantitative trait locus. The effect size for the association of rs7741021 with forearm fractures was significantly higher than the effect size for the association of rs7741021 with fractures at any bone site (P = 1.6 × 10⁻⁵; Z-test) and hip fractures (P = 3.5 × 10⁻²; Z-test). The statistical tests were two-sided.
(b) Betas are given in SD (or ORs) per effect allele (=T-allele). eBMD = estimated bone mineral density measured by ultrasound in the heel. Trabecular vBMD = Trabecular volumetric BMD as measured by pQCT in the distal tibia metaphysis. Cortical vBMD = Cortical volumetric BMD as measured by pQCT in the tibia diaphysis. Cortical thickness = Cortical thickness measured by pQCT in the diaphysis of tibia. pQTL = protein quantitative trait locus. The effect size for the association of rs3734626 with forearm fractures was significantly higher than the effect size for the association of rs3734626 with fractures at any bone site (P = 2.1 × 10⁻³; Z-test) and hip fractures (P = 3.0 × 10⁻²; Z-test). The statistical tests were two-sided.
(c) Betas are given in SD (or ORs) per effect allele (=C-allele). eBMD = estimated bone mineral density measured by ultrasound in the heel. Trabecular vBMD = Trabecular volumetric BMD as measured by pQCT in the distal tibia metaphysis. Cortical vBMD = Cortical volumetric BMD as measured by pQCT in the tibia diaphysis. Cortical thickness = Cortical thickness measured by pQCT in the diaphysis of tibia. pQTL = protein quantitative trait locus. The effect size for the association of rs2489623 with forearm fractures was significantly higher than the effect size for the association of rs2489623 with fractures at any bone site (P = 2.1 × 10⁻³; Z-test) and hip fractures (P = 3.0 × 10⁻²; Z-test). The statistical tests were two-sided.

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Table 1 (a) Associations for rs7741021 in the RSPO3 locus (C-allele = effect allele). (b) Associations for rs3734626 in the RSPO3 locus (T-allele = effect allele). (c) Associations for rs2489623 in the RSPO3 locus (C-allele = effect allele).

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