| Title |
Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone
|
|---|---|
| Published in |
Nature Genetics, May 2010
|
| DOI | 10.1038/ng.562 |
| Pubmed ID | |
| Authors |
Omar M E Albagha, Micaela R Visconti, Nerea Alonso, Anne L Langston, Tim Cundy, Rosemary Dargie, Malcolm G Dunlop, William D Fraser, Michael J Hooper, Gianluca Isaia, Geoff C Nicholson, Javier del Pino Montes, Rogelio Gonzalez-Sarmiento, Marco di Stefano, Albert Tenesa, John P Walsh, Stuart H Ralston |
| Abstract |
Paget's disease of bone (PDB) is a common disorder with a strong genetic component characterized by focal increases in bone turnover, which in some cases is caused by mutations in SQSTM1. To identify additional susceptibility genes, we performed a genome-wide association study in 750 individuals with PDB (cases) without SQSTM1 mutations and 1,002 controls and identified three candidate disease loci, which were then replicated in an independent set of 500 cases and 535 controls. The strongest signal was with rs484959 on 1p13 near the CSF1 gene (P = 5.38 x 10(-24)). Significant associations were also observed with rs1561570 on 10p13 within the OPTN gene (P = 6.09 x 10(-13)) and with rs3018362 on 18q21 near the TNFRSF11A gene (P = 5.27 x 10(-13)). These studies provide new insights into the pathogenesis of PDB and identify OPTN, CSF1 and TNFRSF11A as candidate genes for disease susceptibility. |
Mendeley readers
The data shown below were compiled from readership statistics for 147 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 2 | 1% |
| China | 2 | 1% |
| United Kingdom | 1 | <1% |
| Korea, Republic of | 1 | <1% |
| Brazil | 1 | <1% |
| Canada | 1 | <1% |
| Unknown | 139 | 95% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 32 | 22% |
| Student > Ph. D. Student | 29 | 20% |
| Student > Master | 15 | 10% |
| Student > Bachelor | 13 | 9% |
| Student > Doctoral Student | 10 | 7% |
| Other | 21 | 14% |
| Unknown | 27 | 18% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 44 | 30% |
| Medicine and Dentistry | 34 | 23% |
| Biochemistry, Genetics and Molecular Biology | 22 | 15% |
| Neuroscience | 8 | 5% |
| Engineering | 3 | 2% |
| Other | 8 | 5% |
| Unknown | 28 | 19% |
Attention Score in Context
This research output has an Altmetric Attention Score of 19. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 February 2023.
All research outputs
#1,683,881
of 23,454,152 outputs
Outputs from Nature Genetics
#2,373
of 7,274 outputs
Outputs of similar age
#5,805
of 96,847 outputs
Outputs of similar age from Nature Genetics
#7
of 45 outputs
Altmetric has tracked 23,454,152 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,274 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.7. This one has gotten more attention than average, scoring higher than 67% of its peers.
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We're also able to compare this research output to 45 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.