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- Estrada, Karol, et al.
(author)
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Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
- 2012
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In: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 44:5, s. 491-501
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Journal article (peer-reviewed)abstract
- 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 17 genome-wide association studies and 32,961 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 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10(-8)). 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 × 10(-4), Bonferroni corrected), of which six reached P < 5 × 10(-8), including at 18p11.21 (FAM210A), 7q21.3 (SLC25A13), 11q13.2 (LRP5), 4q22.1 (MEPE), 2p16.2 (SPTBN1) and 10q21.1 (DKK1). These findings shed light on the genetic architecture and pathophysiological mechanisms underlying BMD variation and fracture susceptibility.
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2. |
- Beaumont, Jennifer C., et al.
(author)
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Opportunistic observations of reproductive mode, larval settlement and development of a New Zealand deep-sea stony coral, Goniocorella dumosa
- 2024
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In: Marine Biology. - 0025-3162. ; 171
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Journal article (peer-reviewed)abstract
- Little is known of the reproductive traits and dispersal potential of many deep-sea corals, and in-aquarium spawning has been observed for very few species globally. Here, we document the first known observation of larval release by Goniocorella dumosa (Alcock 1902), a habitat-forming deep-sea scleractinian stony coral found in the New Zealand region. In contrast to previous understanding that G. dumosa were broadcast spawners, colonies of G. dumosa released large (approx. 1.1mm × 0.8mm) free-swimming planula larvae. Further investigation confirmed that this species is a brooder, with up to 10 mature larvae found in single mature polyps, and is the only known brooding deep-sea scleractinian branching coral that produces swimming larvae. Mature corals were collected from the Chatham Rise (400m depth, 43º 22.13 S, 179° 27.09 E), to the east of New Zealand, in June 2020. We describe the observed larval behaviour, settlement and post-larval growth and development of G. dumosa, held in an aquarium, from September to December 2020. The more limited dispersal potential for larvae from a brooding species compared to a broadcast spawning coral has significant implications for both population connectivity and for the potential recovery of this species from disturbance by human activities. This in turn could influence management and protection strategies for G. dumosa and their habitat.
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