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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 (79th percentile)

Mentioned by

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

Citations

dimensions_citation
224 Dimensions

Readers on

mendeley
246 Mendeley
citeulike
5 CiteULike
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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 80 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 246 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 230 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 66 27%
Student > Ph. D. Student 62 25%
Student > Master 26 11%
Student > Bachelor 23 9%
Professor > Associate Professor 15 6%
Other 38 15%
Unknown 16 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 105 43%
Biochemistry, Genetics and Molecular Biology 52 21%
Medicine and Dentistry 39 16%
Arts and Humanities 5 2%
Computer Science 4 2%
Other 21 9%
Unknown 20 8%

Attention Score in Context

This research output has an Altmetric Attention Score of 82. 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 23 July 2019.
All research outputs
#290,418
of 16,625,112 outputs
Outputs from Nature Genetics
#731
of 6,537 outputs
Outputs of similar age
#4,071
of 259,522 outputs
Outputs of similar age from Nature Genetics
#14
of 64 outputs
Altmetric has tracked 16,625,112 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 6,537 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 35.0. This one has done well, scoring higher than 88% 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 259,522 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 79% of its contemporaries.