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Title: Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy
Authors: Graham, 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
Keywords: hemoglobin A1c
untranslated RNA
C10orf112 protein, human
low density lipoprotein receptor
PCSK2 protein, human
proprotein convertase 2
chromosome 14
chromosome 2
chromosome 5
clinical evaluation
clinical feature
cohort analysis
controlled study
diabetic macular edema
disease duration
gene location
genetic risk
genome-wide association study
LINC00343 gene
LOC285626 gene
major clinical study
MALRD1 gene
MRPL19 gene
non insulin dependent diabetes mellitus
NRXN3 gene
PCSK2 gene
proliferative diabetic retinopathy
risk assessment
risk factor
single nucleotide polymorphism
case control study
diabetic retinopathy
genetic predisposition
genome-wide association study
macular edema
middle aged
single nucleotide polymorphism
Case-Control Studies
Chromosomes, Human, Pair 2
Chromosomes, Human, Pair 5
Diabetes Mellitus, Type 2
Diabetic Retinopathy
European Continental Ancestry Group
Genetic Predisposition to Disease
Genome-Wide Association Study
Macular Edema
Middle Aged
Polymorphism, Single Nucleotide
Proprotein Convertase 2
Receptors, LDL
Issue Date: 2018
Citation: Graham, 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.
Rights: Attribution 4.0 International
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. © 2018 The Author(s).
Source Title: BMC Medical Genetics
ISSN: 14712350
DOI: 10.1186/s12881-018-0587-8
Rights: Attribution 4.0 International
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