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Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy

Overview of attention for article published in Vision Research, October 2017
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Title
Whole exome sequencing identification of novel candidate genes in patients with proliferative diabetic retinopathy
Published in
Vision Research, October 2017
DOI 10.1016/j.visres.2017.03.007
Pubmed ID
Authors

Cindy Ung, Angie V. Sanchez, Lishuang Shen, Samaneh Davoudi, Tina Ahmadi, Daniel Navarro-Gomez, Ching J. Chen, Heather Hancock, Alan Penman, Suzanne Hoadley, Mark Consugar, Carlos Restrepo, Vinay A. Shah, Joseph F. Arboleda-Velasquez, Lucia Sobrin, Xiaowu Gai, Leo A. Kim

Abstract

Rare or novel gene variants in patients with proliferative diabetic retinopathy may contribute to disease development. We performed whole exome sequencing (WES) on patients at the phenotypic extremes of diabetic retinal complications: 57 patients diagnosed with proliferativediabetic retinopathy (PDR) as cases and 13 patients with no diabetic retinopathy despite at least 10 years of type 2 diabetes as controls. Thirty-one out of the 57 cases and all 13 controls were from the African American Proliferative Diabetic Retinopathy Study (AA). The rest of the cases were of mixed ethnicities (ME). WES identified 721 candidate genes with rare or novel non-synonymous variants found in at least one case with PDR and not present in any controls. After filtering for genes with null alleles in greater than two cases, 28 candidate genes were identified in our ME cases and 16 genes were identified in our AA cases. Our analysis showed rare and novel variants within these genes that could contribute to the development of PDR, including rare non-synonymous variants in FAM132A, SLC5A9, ZNF600, and TMEM217. We also identified previously unidentified variants in VEGFB and APOB. We found that VEGFB, VPS 13B, PHF21A, NAT1, ZNF600, PKHD1L1 expression was reduced in HRECs under high glucose conditions. In an exome sequence analysis of patients with PDR, we identified variants in genes that could contribute to pathogenesis. Seven of these genes were further validated and found to have reduced expression in human retinal endothelial cells under high glucose conditions, suggestive of an important role in the development of PDR.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 21 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 1 5%
Unknown 20 95%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 19%
Student > Doctoral Student 3 14%
Student > Bachelor 3 14%
Researcher 3 14%
Student > Postgraduate 2 10%
Other 3 14%
Unknown 3 14%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 7 33%
Agricultural and Biological Sciences 3 14%
Medicine and Dentistry 2 10%
Psychology 2 10%
Social Sciences 1 5%
Other 1 5%
Unknown 5 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 April 2017.
All research outputs
#9,818,443
of 12,293,384 outputs
Outputs from Vision Research
#1,441
of 1,637 outputs
Outputs of similar age
#189,113
of 264,011 outputs
Outputs of similar age from Vision Research
#9
of 18 outputs
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So far Altmetric has tracked 1,637 research outputs from this source. They receive a mean Attention Score of 4.5. This one is in the 5th percentile – i.e., 5% of its peers scored the same or lower than it.
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We're also able to compare this research output to 18 others from the same source and published within six weeks on either side of this one. This one is in the 44th percentile – i.e., 44% of its contemporaries scored the same or lower than it.