Please use this identifier to cite or link to this item: https://doi.org/10.1186/s12881-018-0587-8
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dc.titleGenome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
dc.contributor.authorGraham, P.S
dc.contributor.authorKaidonis, G
dc.contributor.authorAbhary, S
dc.contributor.authorGillies, M.C
dc.contributor.authorDaniell, M
dc.contributor.authorEssex, R.W
dc.contributor.authorChang, J.H
dc.contributor.authorLake, S.R
dc.contributor.authorPal, B
dc.contributor.authorJenkins, A.J
dc.contributor.authorHewitt, A.W
dc.contributor.authorLamoureux, E.L
dc.contributor.authorHykin, P.G
dc.contributor.authorPetrovsky, N
dc.contributor.authorBrown, M.A
dc.contributor.authorCraig, J.E
dc.contributor.authorBurdon, K.P
dc.date.accessioned2020-10-27T10:11:06Z
dc.date.available2020-10-27T10:11:06Z
dc.date.issued2018
dc.identifier.citationGraham, P.S, Kaidonis, G, Abhary, S, Gillies, M.C, Daniell, M, Essex, R.W, Chang, J.H, Lake, S.R, Pal, B, Jenkins, A.J, Hewitt, A.W, Lamoureux, E.L, Hykin, P.G, Petrovsky, N, Brown, M.A, Craig, J.E, Burdon, K.P (2018). Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy. BMC Medical Genetics 19 (1) : 71. ScholarBank@NUS Repository. https://doi.org/10.1186/s12881-018-0587-8
dc.identifier.issn14712350
dc.identifier.urihttps://scholarbank.nus.edu.sg/handle/10635/181201
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=4.10×10 -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. © 2018 The Author(s).
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceUnpaywall 20201031
dc.subjecthemoglobin A1c
dc.subjectuntranslated RNA
dc.subjectC10orf112 protein, human
dc.subjectlow density lipoprotein receptor
dc.subjectPCSK2 protein, human
dc.subjectproprotein convertase 2
dc.subjectaged
dc.subjectArticle
dc.subjectAustralian
dc.subjectCaucasian
dc.subjectchromosome 14
dc.subjectchromosome 2
dc.subjectchromosome 5
dc.subjectclinical evaluation
dc.subjectclinical feature
dc.subjectcohort analysis
dc.subjectcontrolled study
dc.subjectdiabetic macular edema
dc.subjectdisease duration
dc.subjectfemale
dc.subjectgene
dc.subjectgene location
dc.subjectgenetic risk
dc.subjectgenome-wide association study
dc.subjectgenotype
dc.subjecthuman
dc.subjectLINC00343 gene
dc.subjectLOC285626 gene
dc.subjectmajor clinical study
dc.subjectmale
dc.subjectMALRD1 gene
dc.subjectMRPL19 gene
dc.subjectnon insulin dependent diabetes mellitus
dc.subjectNRXN3 gene
dc.subjectPCSK2 gene
dc.subjectproliferative diabetic retinopathy
dc.subjectrisk assessment
dc.subjectrisk factor
dc.subjectsingle nucleotide polymorphism
dc.subjectAustralia
dc.subjectcase control study
dc.subjectcomplication
dc.subjectdiabetic retinopathy
dc.subjectgenetic predisposition
dc.subjectgenetics
dc.subjectgenome-wide association study
dc.subjectmacular edema
dc.subjectmiddle aged
dc.subjectprocedures
dc.subjectsingle nucleotide polymorphism
dc.subjectAged
dc.subjectAustralia
dc.subjectCase-Control Studies
dc.subjectChromosomes, Human, Pair 2
dc.subjectChromosomes, Human, Pair 5
dc.subjectDiabetes Mellitus, Type 2
dc.subjectDiabetic Retinopathy
dc.subjectEuropean Continental Ancestry Group
dc.subjectFemale
dc.subjectGenetic Predisposition to Disease
dc.subjectGenome-Wide Association Study
dc.subjectHumans
dc.subjectMacular Edema
dc.subjectMale
dc.subjectMiddle Aged
dc.subjectPolymorphism, Single Nucleotide
dc.subjectProprotein Convertase 2
dc.subjectReceptors, LDL
dc.typeArticle
dc.contributor.departmentDUKE-NUS MEDICAL SCHOOL
dc.description.doi10.1186/s12881-018-0587-8
dc.description.sourcetitleBMC Medical Genetics
dc.description.volume19
dc.description.issue1
dc.description.page71
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