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Mendeley readers
Attention Score in Context
| Title |
Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture
|
|---|---|
| Published in |
Nature, September 2015
|
| DOI | 10.1038/nature14878 |
| Pubmed ID | |
| Authors |
Hou‐Feng Zheng, Vincenzo Forgetta, Yi‐Hsiang Hsu, Karol Estrada, Alberto Rosello‐Diez, Paul J. Leo, Chitra L. Dahia, Kyung Hyun Park‐Min, Jonathan H. Tobias, Charles Kooperberg, Aaron Kleinman, Unnur Styrkarsdottir, Ching‐Ti Liu, Charlotta Uggla, Daniel S. Evans, Carrie M. Nielson, Klaudia Walter, Ulrika Pettersson‐Kymmer, Shane McCarthy, Joel Eriksson, Tony Kwan, Mila Jhamai, Katerina Trajanoska, Yasin Memari, Josine Min, Jie Huang, Petr Danecek, Beth Wilmot, Rui Li, Wen‐Chi Chou, Lauren E. Mokry, Alireza Moayyeri, Melina Claussnitzer, Chia‐Ho Cheng, Warren Cheung, Carolina Medina‐Gómez, Bing Ge, Shu‐Huang Chen, Kwangbom Choi, Ling Oei, James Fraser, Robert Kraaij, Matthew A. Hibbs, Celia L. Gregson, Denis Paquette, Albert Hofman, Carl Wibom, Gregory J. Tranah, Mhairi Marshall, Brooke B. Gardiner, Katie Cremin, Paul Auer, Li Hsu, Sue Ring, Joyce Y. Tung, Gudmar Thorleifsson, Anke W. Enneman, Natasja M. van Schoor, Lisette C. P. G. M. de Groot, Nathalie van der Velde, Beatrice Melin, John P. Kemp, Claus Christiansen, Adrian Sayers, Yanhua Zhou, Sophie Calderari, Jeroen van Rooij, Chris Carlson, Ulrike Peters, Soizik Berlivet, Josée Dostie, Andre G. Uitterlinden, Stephen R. Williams, Charles Farber, Daniel Grinberg, Andrea Z. LaCroix, Jeff Haessler, Daniel I. Chasman, Franco Giulianini, Lynda M. Rose, Paul M. Ridker, John A. Eisman, Tuan V. Nguyen, Jacqueline R. Center, Xavier Nogues, Natalia Garcia‐Giralt, Lenore L. Launer, Vilmunder Gudnason, Dan Mellström, Liesbeth Vandenput, Najaf Amin, Cornelia M. van Duijn, Magnus K. Karlsson, Östen Ljunggren, Olle Svensson, Göran Hallmans, François Rousseau, Sylvie Giroux, Johanne Bussière, Pascal P. Arp, Fjorda Koromani, Richard L. Prince, Joshua R. Lewis, Bente L. Langdahl, A. Pernille Hermann, Jens‐Erik B. Jensen, Stephen Kaptoge, Kay‐Tee Khaw, Jonathan Reeve, Melissa M. Formosa, Angela Xuereb‐Anastasi, Kristina Åkesson, Fiona E. McGuigan, Gaurav Garg, Jose M. Olmos, Maria T. Zarrabeitia, Jose A. Riancho, Stuart H. Ralston, Nerea Alonso, Xi Jiang, David Goltzman, Tomi Pastinen, Elin Grundberg, Dominique Gauguier, Eric S. Orwoll, David Karasik, George Davey‐Smith, Albert V. Smith, Kristin Siggeirsdottir, Tamara B. Harris, M. Carola Zillikens, Joyce B. J. van Meurs, Unnur Thorsteinsdottir, Matthew T. Maurano, Nicholas J. Timpson, Nicole Soranzo, Richard Durbin, Scott G. Wilson, Evangelia E. Ntzani, Matthew A. Brown, Kari Stefansson, David A. Hinds, Tim Spector, L. Adrienne Cupples, Claes Ohlsson, Celia M. T. Greenwood, Rebecca D. Jackson, David W. Rowe, Cynthia A. Loomis, David M. Evans, Cheryl L. Ackert‐Bicknell, Alexandra L. Joyner, Emma L. Duncan, Douglas P. Kiel, Fernando Rivadeneira, J. Brent Richards |
| Abstract |
The extent to which low-frequency (minor allele frequency (MAF) between 1-5%) and rare (MAF ≤ 1%) variants contribute to complex traits and disease in the general population is mainly unknown. Bone mineral density (BMD) is highly heritable, a major predictor of osteoporotic fractures, and has been previously associated with common genetic variants, as well as rare, population-specific, coding variants. Here we identify novel non-coding genetic variants with large effects on BMD (ntotal = 53,236) and fracture (ntotal = 508,253) in individuals of European ancestry from the general population. Associations for BMD were derived from whole-genome sequencing (n = 2,882 from UK10K (ref. 10); a population-based genome sequencing consortium), whole-exome sequencing (n = 3,549), deep imputation of genotyped samples using a combined UK10K/1000 Genomes reference panel (n = 26,534), and de novo replication genotyping (n = 20,271). We identified a low-frequency non-coding variant near a novel locus, EN1, with an effect size fourfold larger than the mean of previously reported common variants for lumbar spine BMD (rs11692564(T), MAF = 1.6%, replication effect size = +0.20 s.d., Pmeta = 2 × 10(-14)), which was also associated with a decreased risk of fracture (odds ratio = 0.85; P = 2 × 10(-11); ncases = 98,742 and ncontrols = 409,511). Using an En1(cre/flox) mouse model, we observed that conditional loss of En1 results in low bone mass, probably as a consequence of high bone turnover. We also identified a novel low-frequency non-coding variant with large effects on BMD near WNT16 (rs148771817(T), MAF = 1.2%, replication effect size = +0.41 s.d., Pmeta = 1 × 10(-11)). In general, there was an excess of association signals arising from deleterious coding and conserved non-coding variants. These findings provide evidence that low-frequency non-coding variants have large effects on BMD and fracture, thereby providing rationale for whole-genome sequencing and improved imputation reference panels to study the genetic architecture of complex traits and disease in the general population. |
X Demographics
The data shown below were collected from the profiles of 88 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 12 | 14% |
| United Kingdom | 10 | 11% |
| Netherlands | 4 | 5% |
| Canada | 3 | 3% |
| Australia | 3 | 3% |
| Venezuela, Bolivarian Republic of | 2 | 2% |
| Sweden | 2 | 2% |
| China | 2 | 2% |
| Spain | 2 | 2% |
| Other | 12 | 14% |
| Unknown | 36 | 41% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 52 | 59% |
| Scientists | 29 | 33% |
| Practitioners (doctors, other healthcare professionals) | 4 | 5% |
| Science communicators (journalists, bloggers, editors) | 3 | 3% |
Mendeley readers
The data shown below were compiled from readership statistics for 385 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Germany | 1 | <1% |
| Netherlands | 1 | <1% |
| Brazil | 1 | <1% |
| South Africa | 1 | <1% |
| United Kingdom | 1 | <1% |
| China | 1 | <1% |
| Spain | 1 | <1% |
| Japan | 1 | <1% |
| United States | 1 | <1% |
| Other | 0 | 0% |
| Unknown | 376 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 84 | 22% |
| Student > Ph. D. Student | 73 | 19% |
| Student > Master | 38 | 10% |
| Student > Bachelor | 24 | 6% |
| Professor > Associate Professor | 23 | 6% |
| Other | 79 | 21% |
| Unknown | 64 | 17% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 87 | 23% |
| Agricultural and Biological Sciences | 82 | 21% |
| Medicine and Dentistry | 74 | 19% |
| Computer Science | 9 | 2% |
| Engineering | 7 | 2% |
| Other | 47 | 12% |
| Unknown | 79 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 171. 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 14 April 2019.
All research outputs
#241,270
of 26,017,215 outputs
Outputs from Nature
#13,799
of 99,074 outputs
Outputs of similar age
#2,957
of 284,336 outputs
Outputs of similar age from Nature
#285
of 1,001 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 98th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 99,074 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 102.3. This one has done well, scoring higher than 85% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 284,336 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 1,001 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.