Faculty of Pharmacy, Lj. (FFALJ)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fractureEstrada, Karol ...Bone mineral density (BMD) is the most widely used predictor of fracture risk.We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 1 17 genome-wide ... association studies and 32,961 1 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 1 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 Ž 1 10Ž8). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral ossification and Wnt signaling pathways. However, we also discovered loci that were localized to genes not known to have a role in bone biology. Fourteen BMD-associated loci were also associated with fracture risk (P < 5 Ž 1 10Ž4, Bonferroni corrected), of which six reached P < 5 Ž 1 10Ž8, including at 1 18p1111.21 (FAM210A), 7q21.3 (SLC25A13), 11 11 11q13.2 (LRP5), 4q22.1 1 (MEPE), 2p16.2 (SPTBN1) and 1 10q21.1 1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.Source: Nature genetics. - ISSN 1061-4036 (Vol. 44, no. 5, 2012, str. 491-501)Type of material - article, component partPublish date - 2012Language - englishCOBISS.SI-ID - 3233137
Author
Estrada, Karol |
Marc, Janja |
Preželj, Janez |
Mencej Bedrač, Simona
Topics
meta analiza |
kostna gostota |
osteporoza |
genomika
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Estrada, Karol | |
Marc, Janja | 12189 |
Preželj, Janez | 01989 |
Mencej Bedrač, Simona | 24475 |
Source: Personal bibliographies
and: SICRIS
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