Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy Graham, Patricia S Kaidonis, Georgia Abhary, Sotoodeh Gillies, Mark Daniell, Mark Essex, Rohan Chang, John H Lake, Stewart Pal, Bishwanath Jenkins, Alicia Hewitt, Alex W Lamoureux, Ecosse L Hykin, Philip G Petrovsky, Nikolai Brown, Matthew A Craig, Jamie E Burdon, Kathryn Penelope 2018-06-26T06:58:50Z 2018-06-26T06:58:50Z 2018-05-08 2018-05-20T03:53:34Z
dc.description © The Author(s). 2018 This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
dc.description.abstract Abstract 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. en_US
dc.identifier.citation Graham, P. S., Kaidonis, G., Abhary, S., Gillies, M. C., Daniell, M., Essex, R. W., … Burdon, K. P. (2018). Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy. BMC Medical Genetics, 19(1).
dc.identifier.issn 1471-2350
dc.language.iso en en
dc.oaire.license.condition.license CC-BY
dc.publisher BioMed Central
dc.relation en
dc.relation.grantnumber NHMRC/595918 en
dc.rights © The Author(s). 2018
dc.rights.holder The Author(s).
dc.subject Genome-wide association study
dc.subject Diabetic retinopathy
dc.subject Macular edema
dc.subject Genetics
dc.subject Diabetes complications
dc.title Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
dc.type Article en
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