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


Graham, PS and Kaidonis, G and Abhary, S and Gillies, MC and Daniell, M and Essex, RW and Chang, JH and Lake, SR and Pal, B and Jenkins, AJ and Hewitt, AW and Lamoureux, EL and Hykin, PG and Petrovsky, N and Brown, MA and Craig, JE and Burdon, KP, Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy, BMC Medical Genetics, 19, (1) Article 71. ISSN 1471-2350 (2018) [Refereed Article]


Copyright Statement

The Author(s). Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1186/s12881-018-0587-8


Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Item Details

Item Type:Refereed Article
Keywords:diabetes complications, diabetic retinopathy, genetics, genome-wide association study, macular edema
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Graham, PS (Mrs Pat Graham)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Burdon, KP (Professor Kathryn Burdon)
ID Code:126328
Year Published:2018
Web of Science® Times Cited:29
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-06-05
Last Modified:2022-08-25
Downloads:75 View Download Statistics

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