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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
Estrada, Karol (Avtor), Marc, Janja (Avtor), Preželj, Janez (Avtor), Mencej Bedrač, Simona (Avtor)

URLURL - Predstavitvena datoteka, za dostop obiščite http://www.nature.com/ng/journal/vaop/ncurrent/pdf/ng.2249.pdf Novo okno

Izvleček
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.

Jezik:Angleški jezik
Ključne besede:meta analiza, kostna gostota, osteporoza, genomika
Vrsta gradiva:Delo ni kategorizirano (r6)
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:FFA - Fakulteta za farmacijo
Leto izida:2012
Št. strani:str. 491-501
Številčenje:Vol. 44, no. 5
UDK:577.1
ISSN pri članku:1061-4036
DOI:10.1038/ng.2249 Povezava se odpre v novem oknu
COBISS.SI-ID:3233137 Povezava se odpre v novem oknu
Število ogledov:471
Število prenosov:165
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
 
Skupna ocena:(0 glasov)
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Gradivo je del revije

Naslov:Nature genetics
Skrajšan naslov:Nat Genet
Založnik:Nature Pub. Co.
ISSN:1061-4036
COBISS.SI-ID:929300 Novo okno

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