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Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk

Overview of attention for article published in Nature Genetics, March 2014
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (87th percentile)

Mentioned by

news
9 news outlets
blogs
4 blogs
twitter
8 X users
facebook
1 Facebook page

Citations

dimensions_citation
259 Dimensions

Readers on

mendeley
178 Mendeley
citeulike
5 CiteULike
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Title
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk
Published in
Nature Genetics, March 2014
DOI 10.1038/ng.2926
Pubmed ID
Authors

Oddgeir L Holmen, He Zhang, Yanbo Fan, Daniel H Hovelson, Ellen M Schmidt, Wei Zhou, Yanhong Guo, Ji Zhang, Arnulf Langhammer, Maja-Lisa Løchen, Santhi K Ganesh, Lars Vatten, Frank Skorpen, Håvard Dalen, Jifeng Zhang, Subramaniam Pennathur, Jin Chen, Carl Platou, Ellisiv B Mathiesen, Tom Wilsgaard, Inger Njølstad, Michael Boehnke, Y Eugene Chen, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer

Abstract

Blood lipid levels are heritable, treatable risk factors for cardiovascular disease. We systematically assessed genome-wide coding variation to identify new genes influencing lipid traits, fine map known lipid loci and evaluate whether low-frequency variants with large effects exist for these traits. Using an exome array, we genotyped 80,137 coding variants in 5,643 Norwegians. We followed up 18 variants in 4,666 Norwegians and identified ten loci with coding variants associated with a lipid trait (P < 5 × 10(-8)). One variant in TM6SF2 (encoding p.Glu167Lys), residing in a known genome-wide association study locus for lipid traits, influences total cholesterol levels and is associated with myocardial infarction. Transient TM6SF2 overexpression or knockdown of Tm6sf2 in mice alters serum lipid profiles, consistent with the association observed in humans, identifying TM6SF2 as a functional gene within a locus previously known as NCAN-CILP2-PBX4 or 19p13. This study demonstrates that systematic assessment of coding variation can quickly point to a candidate causal gene.

X Demographics

X Demographics

The data shown below were collected from the profiles of 8 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 178 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 3 2%
Germany 1 <1%
Canada 1 <1%
Belgium 1 <1%
Mexico 1 <1%
Greece 1 <1%
Spain 1 <1%
Unknown 169 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 48 27%
Student > Ph. D. Student 33 19%
Student > Master 15 8%
Student > Doctoral Student 13 7%
Other 13 7%
Other 32 18%
Unknown 24 13%
Readers by discipline Count As %
Medicine and Dentistry 52 29%
Agricultural and Biological Sciences 49 28%
Biochemistry, Genetics and Molecular Biology 27 15%
Immunology and Microbiology 3 2%
Nursing and Health Professions 3 2%
Other 7 4%
Unknown 37 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 89. 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 22 March 2014.
All research outputs
#446,189
of 24,155,398 outputs
Outputs from Nature Genetics
#931
of 7,370 outputs
Outputs of similar age
#4,035
of 226,050 outputs
Outputs of similar age from Nature Genetics
#10
of 74 outputs
Altmetric has tracked 24,155,398 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 7,370 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 42.4. This one has done well, scoring higher than 87% 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 226,050 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 74 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 87% of its contemporaries.