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Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy

Overview of attention for article published in BMC Medical Genomics, May 2018
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Title
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
Published in
BMC Medical Genomics, May 2018
DOI 10.1186/s12881-018-0587-8
Pubmed ID
Authors

Patricia S. Graham, Georgia Kaidonis, Sotoodeh Abhary, Mark C. Gillies, Mark Daniell, Rohan W. Essex, John H. Chang, Stewart R. Lake, Bishwanath Pal, Alicia J. Jenkins, Alex W. Hewitt, Ecosse L. Lamoureux, Philip G. Hykin, Nikolai Petrovsky, Matthew A. Brown, Jamie E. Craig, Kathryn P. Burdon

Abstract

Diabetic macular edema (DME) and proliferative diabetic retinopathy (PDR) are sight-threatening complications of diabetes mellitus and leading causes of adult-onset blindness worldwide. Genetic risk factors for diabetic retinopathy (DR) have been described previously, but have been difficult to replicate between studies, which have often used composite phenotypes and been conducted in different populations. This study aims to identify genetic risk factors for DME and PDR as separate complications in Australians of European descent with type 2 diabetes. Caucasian Australians with type 2 diabetes were evaluated in a genome-wide association study (GWAS) to compare 270 DME cases and 176 PDR cases with 435 non-retinopathy controls. All participants were genotyped by SNP array and after data cleaning, cases were compared to controls using logistic regression adjusting for relevant covariates. The top ranked SNP for DME was rs1990145 (p = 4.10 × 10- 6, OR = 2.02 95%CI [1.50, 2.72]) on chromosome 2. The top-ranked SNP for PDR was rs918519 (p = 3.87 × 10- 6, OR = 0.35 95%CI [0.22, 0.54]) on chromosome 5. A trend towards association was also detected at two SNPs reported in the only other reported GWAS of DR in Caucasians; rs12267418 near MALRD1 (p = 0.008) in the DME cohort and rs16999051 in the diabetes gene PCSK2 (p = 0.007) in the PDR cohort. This study has identified loci of interest for DME and PDR, two common ocular complications of diabetes. These findings require replication in other Caucasian cohorts with type 2 diabetes and larger cohorts will be required to identify genetic loci with statistical confidence. There is considerable overlap in the patient cohorts with each retinopathy subtype, complicating the search for genes that contribute to PDR and DME biology.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 78 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 78 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 8 10%
Student > Bachelor 8 10%
Student > Master 7 9%
Professor 6 8%
Student > Doctoral Student 6 8%
Other 15 19%
Unknown 28 36%
Readers by discipline Count As %
Medicine and Dentistry 24 31%
Biochemistry, Genetics and Molecular Biology 11 14%
Computer Science 3 4%
Agricultural and Biological Sciences 2 3%
Pharmacology, Toxicology and Pharmaceutical Science 2 3%
Other 6 8%
Unknown 30 38%
Attention Score in Context

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 10 May 2018.
All research outputs
#17,292,294
of 25,382,440 outputs
Outputs from BMC Medical Genomics
#1,315
of 2,444 outputs
Outputs of similar age
#220,574
of 341,279 outputs
Outputs of similar age from BMC Medical Genomics
#24
of 56 outputs
Altmetric has tracked 25,382,440 research outputs across all sources so far. This one is in the 21st percentile – i.e., 21% of other outputs scored the same or lower than it.
So far Altmetric has tracked 2,444 research outputs from this source. They receive a mean Attention Score of 4.4. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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 341,279 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 26th percentile – i.e., 26% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 56 others from the same source and published within six weeks on either side of this one. This one is in the 42nd percentile – i.e., 42% of its contemporaries scored the same or lower than it.