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Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes

Overview of attention for article published in Nature Genetics, January 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)
  • Good Attention Score compared to outputs of the same age and source (78th percentile)

Mentioned by

news
3 news outlets
policy
1 policy source
twitter
84 tweeters
patent
1 patent
facebook
2 Facebook pages
googleplus
1 Google+ user

Citations

dimensions_citation
209 Dimensions

Readers on

mendeley
231 Mendeley
citeulike
5 CiteULike
Title
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
Published in
Nature Genetics, January 2014
DOI 10.1038/ng.2882
Pubmed ID
Authors

Valgerdur Steinthorsdottir, Gudmar Thorleifsson, Patrick Sulem, Hannes Helgason, Niels Grarup, Asgeir Sigurdsson, Hafdis T Helgadottir, Hrefna Johannsdottir, Olafur T Magnusson, Sigurjon A Gudjonsson, Johanne M Justesen, Marie N Harder, Marit E Jørgensen, Cramer Christensen, Ivan Brandslund, Annelli Sandbæk, Torsten Lauritzen, Henrik Vestergaard, Allan Linneberg, Torben Jørgensen, Torben Hansen, Maryam S Daneshpour, Mohammad-Sadegh Fallah, Astradur B Hreidarsson, Gunnar Sigurdsson, Fereidoun Azizi, Rafn Benediktsson, Gisli Masson, Agnar Helgason, Augustine Kong, Daniel F Gudbjartsson, Oluf Pedersen, Unnur Thorsteinsdottir, Kari Stefansson

Abstract

Through whole-genome sequencing of 2,630 Icelanders and imputation into 11,114 Icelandic cases and 267,140 controls followed by testing in Danish and Iranian samples, we discovered 4 previously unreported variants affecting risk of type 2 diabetes (T2D). A low-frequency (1.47%) variant in intron 1 of CCND2, rs76895963[G], reduces risk of T2D by half (odds ratio (OR) = 0.53, P = 5.0 × 10(-21)) and is correlated with increased CCND2 expression. Notably, this variant is also associated with both greater height and higher body mass index (1.17 cm per allele, P = 5.5 × 10(-12) and 0.56 kg/m(2) per allele, P = 6.5 × 10(-7), respectively). In addition, two missense variants in PAM, encoding p.Asp563Gly (frequency of 4.98%) and p.Ser539Trp (frequency of 0.65%), confer moderately higher risk of T2D (OR = 1.23, P = 3.9 × 10(-10) and OR = 1.47, P = 1.7 × 10(-5), respectively), and a rare (0.20%) frameshift variant in PDX1, encoding p.Gly218Alafs*12, associates with high risk of T2D (OR = 2.27, P = 7.3 × 10(-7)).

Twitter Demographics

The data shown below were collected from the profiles of 84 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 231 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 4 2%
Spain 2 <1%
South Africa 1 <1%
Korea, Republic of 1 <1%
Brazil 1 <1%
Netherlands 1 <1%
India 1 <1%
United Kingdom 1 <1%
Canada 1 <1%
Other 3 1%
Unknown 215 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 64 28%
Student > Ph. D. Student 59 26%
Student > Master 25 11%
Student > Bachelor 22 10%
Professor > Associate Professor 15 6%
Other 35 15%
Unknown 11 5%
Readers by discipline Count As %
Agricultural and Biological Sciences 102 44%
Biochemistry, Genetics and Molecular Biology 48 21%
Medicine and Dentistry 38 16%
Arts and Humanities 4 2%
Computer Science 4 2%
Other 18 8%
Unknown 17 7%

Attention Score in Context

This research output has an Altmetric Attention Score of 81. 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 12 July 2019.
All research outputs
#229,944
of 14,336,235 outputs
Outputs from Nature Genetics
#661
of 6,309 outputs
Outputs of similar age
#3,808
of 248,530 outputs
Outputs of similar age from Nature Genetics
#14
of 64 outputs
Altmetric has tracked 14,336,235 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 6,309 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 33.2. This one has done well, scoring higher than 89% 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 248,530 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 64 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 78% of its contemporaries.