Sökning: WFRF:(Bassett J. H.Duncan) > An atlas of genetic...
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000 | 04980naa a2200985 4500 | |
001 | oai:gup.ub.gu.se/276254 | |
003 | SwePub | |
008 | 240910s2019 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/2762542 URI |
024 | 7 | a https://doi.org/10.1038/s41588-018-0302-x2 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Morris, John A4 aut |
245 | 1 0 | a An atlas of genetic influences on osteoporosis in humans and mice. |
264 | c 2018-12-31 | |
264 | 1 | b Springer Science and Business Media LLC,c 2019 |
520 | a Osteoporosis is a common aging-related disease diagnosed primarily using bone mineral density (BMD). We assessed genetic determinants of BMD as estimated by heel quantitative ultrasound in 426,824 individuals, identifying 518 genome-wide significant loci (301 novel), explaining 20% of its variance. We identified 13 bone fracture loci, all associated with estimated BMD (eBMD), in ~1.2 million individuals. We then identified target genes enriched for genes known to influence bone density and strength (maximum odds ratio (OR)=58, P=1 × 10-75) from cell-specific features, including chromatin conformation and accessible chromatin sites. We next performed rapid-throughput skeletal phenotyping of 126 knockout mice with disruptions in predicted target genes and found an increased abnormal skeletal phenotype frequency compared to 526 unselected lines (P<0.0001). In-depth analysis of one gene, DAAM2, showed a disproportionate decrease in bone strength relative to mineralization. This genetic atlas provides evidence linking associated SNPs to causal genes, offers new insight into osteoporosis pathophysiology, and highlights opportunities for drug development. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Endokrinologi och diabetes0 (SwePub)302052 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Endocrinology and Diabetes0 (SwePub)302052 hsv//eng |
700 | 1 | a Kemp, John P4 aut |
700 | 1 | a Youlten, Scott E4 aut |
700 | 1 | a Laurent, Laetitia4 aut |
700 | 1 | a Logan, John G4 aut |
700 | 1 | a Chai, Ryan C4 aut |
700 | 1 | a Vulpescu, Nicholas A4 aut |
700 | 1 | a Forgetta, Vincenzo4 aut |
700 | 1 | a Kleinman, Aaron4 aut |
700 | 1 | a Mohanty, Sindhu T4 aut |
700 | 1 | a Sergio, C Marcelo4 aut |
700 | 1 | a Quinn, Julian4 aut |
700 | 1 | a Nguyen-Yamamoto, Loan4 aut |
700 | 1 | a Luco, Aimee-Lee4 aut |
700 | 1 | a Vijay, Jinchu4 aut |
700 | 1 | a Simon, Marie-Michelle4 aut |
700 | 1 | a Pramatarova, Albena4 aut |
700 | 1 | a Medina-Gomez, Carolina4 aut |
700 | 1 | a Trajanoska, Katerina4 aut |
700 | 1 | a Ghirardello, Elena J4 aut |
700 | 1 | a Butterfield, Natalie C4 aut |
700 | 1 | a Curry, Katharine F4 aut |
700 | 1 | a Leitch, Victoria D4 aut |
700 | 1 | a Sparkes, Penny C4 aut |
700 | 1 | a Adoum, Anne-Tounsia4 aut |
700 | 1 | a Mannan, Naila S4 aut |
700 | 1 | a Komla-Ebri, Davide S K4 aut |
700 | 1 | a Pollard, Andrea S4 aut |
700 | 1 | a Dewhurst, Hannah F4 aut |
700 | 1 | a Hassall, Thomas A D4 aut |
700 | 1 | a Beltejar, Michael-John G4 aut |
700 | 1 | a Adams, Douglas J4 aut |
700 | 1 | a Vaillancourt, Suzanne M4 aut |
700 | 1 | a Kaptoge, Stephen4 aut |
700 | 1 | a Baldock, Paul4 aut |
700 | 1 | a Cooper, Cyrus4 aut |
700 | 1 | a Reeve, Jonathan4 aut |
700 | 1 | a Ntzani, Evangelia E4 aut |
700 | 1 | a Evangelou, Evangelos4 aut |
700 | 1 | a Ohlsson, Claes,d 1965u Gothenburg University,Göteborgs universitet,Centre for Bone and Arthritis Research,Institutionen för medicin, avdelningen för invärtesmedicin och klinisk nutrition,Institute of Medicine, Department of Internal Medicine and Clinical Nutrition4 aut0 (Swepub:gu)xohlcl |
700 | 1 | a Karasik, David4 aut |
700 | 1 | a Rivadeneira, Fernando4 aut |
700 | 1 | a Kiel, Douglas P4 aut |
700 | 1 | a Tobias, Jonathan H4 aut |
700 | 1 | a Gregson, Celia L4 aut |
700 | 1 | a Harvey, Nicholas C4 aut |
700 | 1 | a Grundberg, Elin4 aut |
700 | 1 | a Goltzman, David4 aut |
700 | 1 | a Adams, David J4 aut |
700 | 1 | a Lelliott, Christopher J4 aut |
700 | 1 | a Hinds, David A4 aut |
700 | 1 | a Ackert-Bicknell, Cheryl L4 aut |
700 | 1 | a Hsu, Yi-Hsiang4 aut |
700 | 1 | a Maurano, Matthew T4 aut |
700 | 1 | a Croucher, Peter I4 aut |
700 | 1 | a Williams, Graham R4 aut |
700 | 1 | a Bassett, J H Duncan4 aut |
700 | 1 | a Evans, David M4 aut |
700 | 1 | a Richards, J Brent4 aut |
710 | 2 | a Göteborgs universitetb Centre for Bone and Arthritis Research4 org |
773 | 0 | t Nature geneticsd : Springer Science and Business Media LLCg 51, s. 258-266q 51<258-266x 1546-1718x 1061-4036 |
856 | 4 | u https://europepmc.org/articles/pmc6358485?pdf=render |
856 | 4 8 | u https://gup.ub.gu.se/publication/276254 |
856 | 4 8 | u https://doi.org/10.1038/s41588-018-0302-x |
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