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Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus

Overview of attention for article published in Nature Communications, July 2017
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (94th percentile)
  • Good Attention Score compared to outputs of the same age and source (69th percentile)

Mentioned by

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6 news outlets
blogs
1 blog
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6 X users
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1 Facebook page
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1 Google+ user

Citations

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75 Dimensions

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98 Mendeley
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Title
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus
Published in
Nature Communications, July 2017
DOI 10.1038/s41467-017-00108-3
Pubmed ID
Authors

Carolina Medina-Gomez, John P. Kemp, Niki L. Dimou, Eskil Kreiner, Alessandra Chesi, Babette S. Zemel, Klaus Bønnelykke, Cindy G. Boer, Tarunveer S. Ahluwalia, Hans Bisgaard, Evangelos Evangelou, Denise H. M. Heppe, Lynda F. Bonewald, Jeffrey P. Gorski, Mohsen Ghanbari, Serkalem Demissie, Gustavo Duque, Matthew T. Maurano, Douglas P. Kiel, Yi-Hsiang Hsu, Bram C.J. van der Eerden, Cheryl Ackert-Bicknell, Sjur Reppe, Kaare M. Gautvik, Truls Raastad, David Karasik, Jeroen van de Peppel, Vincent W. V. Jaddoe, André G. Uitterlinden, Jonathan H. Tobias, Struan F.A. Grant, Pantelis G. Bagos, David M. Evans, Fernando Rivadeneira

Abstract

Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and total-body less head bone mineral density (TBLH-BMD) regions in 10,414 children. The estimated SNP heritability is 43% (95% CI: 34-52%) for TBLH-BMD, and 39% (95% CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95% CI: 29-56%). We identify variants with pleiotropic effects in eight loci, including seven established bone mineral density loci: WNT4, GALNT3, MEPE, CPED1/WNT16, TNFSF11, RIN3, and PPP6R3/LRP5. Variants in the TOM1L2/SREBF1 locus exert opposing effects TB-LM and TBLH-BMD, and have a stronger association with the former trait. We show that SREBF1 is expressed in murine and human osteoblasts, as well as in human muscle tissue. This is the first bivariate GWAS meta-analysis to demonstrate genetic factors with pleiotropic effects on bone mineral density and lean mass.Bone mineral density and lean skeletal mass are heritable traits. Here, Medina-Gomez and colleagues perform bivariate GWAS analyses of total body lean mass and bone mass density in children, and show genetic loci with pleiotropic effects on both traits.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 98 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 98 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 21 21%
Researcher 15 15%
Student > Master 10 10%
Professor 7 7%
Student > Doctoral Student 4 4%
Other 13 13%
Unknown 28 29%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 24 24%
Agricultural and Biological Sciences 11 11%
Medicine and Dentistry 11 11%
Social Sciences 5 5%
Nursing and Health Professions 4 4%
Other 12 12%
Unknown 31 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 51. 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 06 December 2022.
All research outputs
#799,631
of 24,954,788 outputs
Outputs from Nature Communications
#13,440
of 54,692 outputs
Outputs of similar age
#16,682
of 322,230 outputs
Outputs of similar age from Nature Communications
#248
of 814 outputs
Altmetric has tracked 24,954,788 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 96th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 54,692 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.8. This one has done well, scoring higher than 75% 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 322,230 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 94% of its contemporaries.
We're also able to compare this research output to 814 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 69% of its contemporaries.