Osteoporosis and osteoarthritis: a bi-directional Mendelian randomization study

Table 3 Significant eQTL signals for osteoporosis and osteoarthritis from musculoskeletal tissues based on the GTEx data

Direction	Ensemble ID	Gene Symbol	CHR	POS	SNP ID	P-value	Normalized effect size	Tissue
FN-BMD	ENSG00000153107.11	ANAPC1	2	112500035	rs17040773	2.80 × 10⁻⁰⁷	0.190	Muscle-Skeletal
FN-BMD	ENSG00000115339.13	GALNT3	2	166601046	rs1346004	1.20 × 10⁻¹⁰	− 0.280
LS-BMD	ENSG00000148943.11	LIN7C	11	27505677	rs10835187	0.00015	− 0.100
	ENSG00000115339.13	GALNT3	2	166601046	rs1346004	1.20 × 10⁻¹⁰	− 0.280
	ENSG00000115339.13	GALNT3	2	166603281	rs11680288	1.00 × 10⁻¹⁰	− 0.280
TB-BMD	ENSG00000181418.7	DDN	12	49385679	rs10875906	6.60 × 10⁻¹⁷	− 0.310
TB-BMD	ENSG00000115339.13	GALNT3	2	166577489	rs7586085	2.30 × 10⁻¹⁰	− 0.280
Hip OA	ENSG00000168056.15	LTBP3	11	65323725	rs10896015	1.50 × 10⁻¹¹	0.190
	ENSG00000175727.13	MLXIP	12	122606837	rs11059094	9.60 × 10⁻⁰⁷	− 0.100
	ENSG00000166949.15	SMAD3	15	67370506	rs12901372	5.60 × 10⁻¹⁸	0.270
	ENSG00000264589.2	MAPT	17	44038785	rs62063281	3.90 × 10⁻¹²	− 0.350

eQTL expression quantitative trait locus, BMD bone mineral density, OA osteoarthritis, CHR chromosome, POS position, P-value: the statistical analysis of enrichment score effect size, which is used to characterize the credibility of enrichment results

ISSN: 1478-6362