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Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

Overview of attention for article published in Nature Genetics, August 2008
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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 (95th percentile)
  • High Attention Score compared to outputs of the same age and source (84th percentile)

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1 blog
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1 X user
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5 patents
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1 research highlight platform

Citations

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591 Dimensions

Readers on

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361 Mendeley
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4 CiteULike
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3 Connotea
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Title
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
Published in
Nature Genetics, August 2008
DOI 10.1038/ng.215
Pubmed ID
Authors

Steven A McCarroll, Alan Huett, Petric Kuballa, Shannon D Chilewski, Aimee Landry, Philippe Goyette, Michael C Zody, Jennifer L Hall, Steven R Brant, Judy H Cho, Richard H Duerr, Mark S Silverberg, Kent D Taylor, John D Rioux, David Altshuler, Mark J Daly, Ramnik J Xavier

Abstract

Following recent success in genome-wide association studies, a critical focus of human genetics is to understand how genetic variation at implicated loci influences cellular and disease processes. Crohn's disease (CD) is associated with SNPs around IRGM, but coding-sequence variation has been excluded as a source of this association. We identified a common, 20-kb deletion polymorphism, immediately upstream of IRGM and in perfect linkage disequilibrium (r2 = 1.0) with the most strongly CD-associated SNP, that causes IRGM to segregate in the population with two distinct upstream sequences. The deletion (CD risk) and reference (CD protective) haplotypes of IRGM showed distinct expression patterns. Manipulation of IRGM expression levels modulated cellular autophagy of internalized bacteria, a process implicated in CD. These results suggest that the CD association at IRGM arises from an alteration in IRGM regulation that affects the efficacy of autophagy and identify a common deletion polymorphism as a likely causal variant.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 361 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 7 2%
United States 7 2%
United Kingdom 4 1%
Colombia 1 <1%
France 1 <1%
India 1 <1%
Italy 1 <1%
Norway 1 <1%
Singapore 1 <1%
Other 3 <1%
Unknown 334 93%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 83 23%
Researcher 68 19%
Student > Master 34 9%
Student > Bachelor 32 9%
Professor > Associate Professor 26 7%
Other 62 17%
Unknown 56 16%
Readers by discipline Count As %
Agricultural and Biological Sciences 121 34%
Biochemistry, Genetics and Molecular Biology 60 17%
Medicine and Dentistry 57 16%
Immunology and Microbiology 24 7%
Computer Science 8 2%
Other 34 9%
Unknown 57 16%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 22. 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 07 April 2020.
All research outputs
#1,446,259
of 22,660,862 outputs
Outputs from Nature Genetics
#2,149
of 7,173 outputs
Outputs of similar age
#3,531
of 83,499 outputs
Outputs of similar age from Nature Genetics
#9
of 59 outputs
Altmetric has tracked 22,660,862 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 7,173 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 40.9. This one has gotten more attention than average, scoring higher than 69% 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 83,499 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 59 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.