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A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

Overview of attention for article published in Nature Communications, September 2014
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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 (95th percentile)
  • Good Attention Score compared to outputs of the same age and source (75th percentile)

Mentioned by

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3 news outlets
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22 X users
facebook
1 Facebook page
googleplus
1 Google+ user

Citations

dimensions_citation
64 Dimensions

Readers on

mendeley
145 Mendeley
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3 CiteULike
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Title
A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans
Published in
Nature Communications, September 2014
DOI 10.1038/ncomms5871
Pubmed ID
Authors

Nicholas J. Timpson, Klaudia Walter, Josine L. Min, Ioanna Tachmazidou, Giovanni Malerba, So-Youn Shin, Lu Chen, Marta Futema, Lorraine Southam, Valentina Iotchkova, Massimiliano Cocca, Jie Huang, Yasin Memari, Shane McCarthy, Petr Danecek, Dawn Muddyman, Massimo Mangino, Cristina Menni, John R. B. Perry, Susan M. Ring, Amadou Gaye, George Dedoussis, Aliki-Eleni Farmaki, Paul Burton, Philippa J. Talmud, Giovanni Gambaro, Tim D. Spector, George Davey Smith, Richard Durbin, J Brent Richards, Steve E. Humphries, Eleftheria Zeggini, Nicole Soranzo

Abstract

The analysis of rich catalogues of genetic variation from population-based sequencing provides an opportunity to screen for functional effects. Here we report a rare variant in APOC3 (rs138326449-A, minor allele frequency ~0.25% (UK)) associated with plasma triglyceride (TG) levels (-1.43 s.d. (s.e.=0.27 per minor allele (P-value=8.0 × 10(-8))) discovered in 3,202 individuals with low read-depth, whole-genome sequence. We replicate this in 12,831 participants from five additional samples of Northern and Southern European origin (-1.0 s.d. (s.e.=0.173), P-value=7.32 × 10(-9)). This is consistent with an effect between 0.5 and 1.5 mmol l(-1) dependent on population. We show that a single predicted splice donor variant is responsible for association signals and is independent of known common variants. Analyses suggest an independent relationship between rs138326449 and high-density lipoprotein (HDL) levels. This represents one of the first examples of a rare, large effect variant identified from whole-genome sequencing at a population scale.

X Demographics

X Demographics

The data shown below were collected from the profiles of 22 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 145 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United Kingdom 2 1%
United States 2 1%
Japan 1 <1%
Finland 1 <1%
Unknown 139 96%

Demographic breakdown

Readers by professional status Count As %
Researcher 36 25%
Student > Ph. D. Student 19 13%
Professor > Associate Professor 13 9%
Other 11 8%
Student > Bachelor 10 7%
Other 32 22%
Unknown 24 17%
Readers by discipline Count As %
Agricultural and Biological Sciences 39 27%
Biochemistry, Genetics and Molecular Biology 30 21%
Medicine and Dentistry 29 20%
Computer Science 4 3%
Unspecified 3 2%
Other 10 7%
Unknown 30 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 39. 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 27 June 2020.
All research outputs
#940,221
of 23,511,526 outputs
Outputs from Nature Communications
#15,152
of 48,849 outputs
Outputs of similar age
#9,600
of 227,132 outputs
Outputs of similar age from Nature Communications
#161
of 655 outputs
Altmetric has tracked 23,511,526 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 48,849 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 56.3. This one has gotten more attention than average, scoring higher than 68% 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 227,132 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 95% of its contemporaries.
We're also able to compare this research output to 655 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 75% of its contemporaries.