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Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

Overview of attention for article published in Nature Communications, March 2017
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  • In the top 5% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (97th percentile)
  • High Attention Score compared to outputs of the same age and source (83rd percentile)

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14 news outlets
blogs
1 blog
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9 X users

Citations

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106 Dimensions

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Title
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy
Published in
Nature Communications, March 2017
DOI 10.1038/ncomms14898
Pubmed ID
Authors

Natalie A. Afshari, Robert P. Igo, Nathan J. Morris, Dwight Stambolian, Shiwani Sharma, V. Lakshmi Pulagam, Steven Dunn, John F. Stamler, Barbara J. Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R. Croasdale, Xuejun Qin, Kathryn P. Burdon, S. Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A. Minear, Jiagang Zhao, Elmer Balajonda, George O. Rosenwasser, Keith H Baratz, V. Vinod Mootha, Sanjay V. Patel, Simon G. Gregory, Joan E. Bailey-Wilson, Marianne O. Price, Francis W. Price, Jamie E. Craig, John H. Fingert, John D. Gottsch, Anthony J. Aldave, Gordon K. Klintworth, Jonathan H. Lass, Yi-Ju Li, Sudha K. Iyengar

Abstract

The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10(-8)): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114. We also observe an overwhelming effect of the established TCF4 locus. Interestingly, we detect differential sex-specific association at LAMC1, with greater risk in women, and TCF4, with greater risk in men. Combining GWAS results with biological evidence we expand the knowledge of common FECD loci from one to four, and provide a deeper understanding of the underlying pathogenic basis of FECD.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 81 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 81 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 18 22%
Student > Ph. D. Student 7 9%
Student > Doctoral Student 6 7%
Student > Bachelor 5 6%
Other 5 6%
Other 14 17%
Unknown 26 32%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 20 25%
Medicine and Dentistry 19 23%
Agricultural and Biological Sciences 4 5%
Computer Science 2 2%
Mathematics 2 2%
Other 6 7%
Unknown 28 35%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 114. 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 09 February 2022.
All research outputs
#314,760
of 23,090,520 outputs
Outputs from Nature Communications
#5,033
of 47,606 outputs
Outputs of similar age
#7,438
of 309,190 outputs
Outputs of similar age from Nature Communications
#144
of 852 outputs
Altmetric has tracked 23,090,520 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 47,606 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 55.9. 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 309,190 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 97% of its contemporaries.
We're also able to compare this research output to 852 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 83% of its contemporaries.