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Chunk #14 — Results — eQTL analyses

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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
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Expression profiles at the GWS BMD loci were analyzed within four datasets (see Supplementary Note). In trans-iliac bone biopsies, expression of five genes correlated with LS-BMD and/or FN-BMD of the donors with P < 0.001 including PSME4 (2p16.2), DKK1 (10q21.1), C17orf91 (17p13.3), SOST (17q21.31_1) and DUSP3 (17q21.31_1) (Supplementary Table 13). Among them DKK1 (10q21.1) was the most significantly correlated with FN-BMD (P=1.3×10−5) and LS-BMD (P=3.2×10−4). Variants in all these BMD loci (with exception of 17p13.3) were also associated with fractures.