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

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dc.contributor.authorGraham, Patricia
dc.contributor.authorKaidonis, Georgia
dc.contributor.authorAbhary, Sotoodeh
dc.contributor.authorGillies, Mark C
dc.contributor.authorDaniell, Mark
dc.contributor.authorEssex, Rohan
dc.contributor.authorChang, John H.
dc.contributor.authorLake, Stewart
dc.contributor.authorPal, Bishwanath
dc.contributor.authorJenkins, Alicia
dc.contributor.authorHewitt, Alex W
dc.date.accessioned2019-05-07T03:50:41Z
dc.date.available2019-05-07T03:50:41Z
dc.date.issued2018
dc.date.updated2019-03-12T07:37:19Z
dc.description.abstractBackground: 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 x 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 x 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 PCSK.2 (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_AU
dc.format.mimetypeapplication/pdfen_AU
dc.identifier.issn1471-2350en_AU
dc.identifier.urihttp://hdl.handle.net/1885/160898
dc.language.isoen_AUen_AU
dc.provenancehttp://sherpa.ac.uk/romeo/issn/1471-2350/..."author can archive publisher's version/PDF" from SHERPA/RoMEO site (as at 7/5/19)en_AU
dc.publisherBioMed Centralen_AU
dc.relationhttp://purl.org/au-research/grants/nhmrc/595918en_AU
dc.rights© 2018. The Author(s).en_AU
dc.rights.licenseCreative Commons Attribution 4.0 International License
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceBMC Medical Geneticsen_AU
dc.titleGenome-wide association studies for diabetic macular edema and proliferative diabetic retinopathyen_AU
dc.typeJournal articleen_AU
dcterms.accessRightsOpen Accessen_AU
local.bibliographicCitation.issue71en_AU
local.contributor.affiliationGraham, Patricia, University of Tasmaniaen_AU
local.contributor.affiliationKaidonis, Georgia, Flinders Universityen_AU
local.contributor.affiliationAbhary, Sotoodeh, Flinders Universityen_AU
local.contributor.affiliationGillies, Mark C, University of Sydneyen_AU
local.contributor.affiliationDaniell, Mark, Royal Melbourne Hospitalen_AU
local.contributor.affiliationEssex, Rohan, College of Health and Medicine, ANUen_AU
local.contributor.affiliationChang, John H., University of New South Walesen_AU
local.contributor.affiliationLake, Stewart, Flinders Universityen_AU
local.contributor.affiliationPal, Bishwanath, Moorfields Eye Hospitalen_AU
local.contributor.affiliationJenkins, Alicia, St Vincent’s Hospitalen_AU
local.contributor.affiliationHewitt, Alex W., University of Melbourneen_AU
local.contributor.authoremailu5102645@anu.edu.auen_AU
local.contributor.authoruidEssex, Rohan, u5102645en_AU
local.description.notesImported from ARIESen_AU
local.identifier.absfor110311 - Medical Genetics (excl. Cancer Genetics)en_AU
local.identifier.absseo920104 - Diabetesen_AU
local.identifier.ariespublicationu5369653xPUB96en_AU
local.identifier.citationvolume19en_AU
local.identifier.doi10.1186/s12881-018-0587-8en_AU
local.identifier.scopusID2-s2.0-85046634231
local.identifier.uidSubmittedByu5369653en_AU
local.type.statusPublished Versionen_AU

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