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Identification of low-frequency variants associated with gout and serum uric acid levels

Overview of attention for article published in Nature Genetics, October 2011
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  • In the top 25% 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 (79th percentile)

Mentioned by

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1 news outlet
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2 X users
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3 patents
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1 Facebook page

Citations

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136 Dimensions

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117 Mendeley
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2 CiteULike
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Title
Identification of low-frequency variants associated with gout and serum uric acid levels
Published in
Nature Genetics, October 2011
DOI 10.1038/ng.972
Pubmed ID
Authors

Patrick Sulem, Daniel F Gudbjartsson, G Bragi Walters, Hafdis T Helgadottir, Agnar Helgason, Sigurjon A Gudjonsson, Carlo Zanon, Soren Besenbacher, Gyda Bjornsdottir, Olafur T Magnusson, Gisli Magnusson, Eirikur Hjartarson, Jona Saemundsdottir, Arnaldur Gylfason, Adalbjorg Jonasdottir, Hilma Holm, Ari Karason, Thorunn Rafnar, Hreinn Stefansson, Ole A Andreassen, Jesper H Pedersen, Allan I Pack, Marieke C H de Visser, Lambertus A Kiemeney, Arni J Geirsson, Gudmundur I Eyjolfsson, Isleifur Olafsson, Augustine Kong, Gisli Masson, Helgi Jonsson, Unnur Thorsteinsdottir, Ingileif Jonsdottir, Kari Stefansson

Abstract

We tested 16 million SNPs, identified through whole-genome sequencing of 457 Icelanders, for association with gout and serum uric acid levels. Genotypes were imputed into 41,675 chip-genotyped Icelanders and their relatives, for effective sample sizes of 968 individuals with gout and 15,506 individuals for whom serum uric acid measurements were available. We identified a low-frequency missense variant (c.1580C>G) in ALDH16A1 associated with gout (OR = 3.12, P = 1.5 × 10(-16), at-risk allele frequency = 0.019) and serum uric acid levels (effect = 0.36 s.d., P = 4.5 × 10(-21)). We confirmed the association with gout by performing Sanger sequencing on 6,017 Icelanders. The association with gout was stronger in males relative to females. We also found a second variant on chromosome 1 associated with gout (OR = 1.92, P = 0.046, at-risk allele frequency = 0.986) and serum uric acid levels (effect = 0.48 s.d., P = 4.5 × 10(-16)). This variant is close to a common variant previously associated with serum uric acid levels. This work illustrates how whole-genome sequencing data allow the detection of associations between low-frequency variants and complex traits.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 117 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Hungary 1 <1%
Australia 1 <1%
United Kingdom 1 <1%
Iceland 1 <1%
Mexico 1 <1%
Japan 1 <1%
Unknown 111 95%

Demographic breakdown

Readers by professional status Count As %
Researcher 32 27%
Student > Ph. D. Student 25 21%
Professor > Associate Professor 8 7%
Student > Master 8 7%
Student > Postgraduate 6 5%
Other 24 21%
Unknown 14 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 42 36%
Medicine and Dentistry 25 21%
Biochemistry, Genetics and Molecular Biology 19 16%
Computer Science 5 4%
Nursing and Health Professions 2 2%
Other 8 7%
Unknown 16 14%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 20. 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 20 July 2022.
All research outputs
#1,579,006
of 22,888,307 outputs
Outputs from Nature Genetics
#2,288
of 7,207 outputs
Outputs of similar age
#7,850
of 136,605 outputs
Outputs of similar age from Nature Genetics
#17
of 83 outputs
Altmetric has tracked 22,888,307 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 93rd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,207 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.3. 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 136,605 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 83 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.