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    Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

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    Author
    Liu, E; Kaidonis, G; Gillies, MC; Abhary, S; Essex, RW; Chang, JH; Pal, B; Daniell, M; Lake, S; Gilhotra, J; ...
    Date
    2019-01-24
    Source Title
    Scientific Reports
    Publisher
    NATURE PUBLISHING GROUP
    University of Melbourne Author/s
    Lamoureux, Ecosse; Daniell, Mark; Jenkins, Alicia; Craig, Jamie; Hewitt, Alexander
    Affiliation
    Centre for Eye Research Australia (CERA)
    Ophthalmology (Eye & Ear Hospital)
    Medicine and Radiology
    Metadata
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    Document Type
    Journal Article
    Citations
    Liu, E., Kaidonis, G., Gillies, M. C., Abhary, S., Essex, R. W., Chang, J. H., Pal, B., Daniell, M., Lake, S., Gilhotra, J., Petrovsky, N., Hewitt, A. W., Jenkins, A., Lamoureux, E. L., Gleadle, J. M., Burdon, K. P. & Craig, J. E. (2019). Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample. SCIENTIFIC REPORTS, 9 (1), https://doi.org/10.1038/s41598-018-37388-8.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/253612
    DOI
    10.1038/s41598-018-37388-8
    Abstract
    Mitochondrial haplogroups H1, H2 and UK have previously been reported to be associated with proliferative diabetic retinopathy (PDR) in Caucasian patients with diabetes. We aimed to replicate this finding with a larger sample and expand the analysis to include different severities of DR, and diabetic macular edema (DME). Caucasian participants (n = 2935) with either type 1 or type 2 diabetes from the Australian Registry of Advanced Diabetic Retinopathy were enrolled in this study. Twenty-two mitochondrial single nucleotide polymorphisms were genotyped by MassArray and haplogroups reconstructed using Haplogrep. Chi square tests and logistic regressions were used to test associations between haplogroup and DR phenotypes including any DR, non-proliferative DR (NPDR), proliferative DR (PDR) and DME. After stratifying the samples in type 1 and type 2 diabetes groups, and adjusting for sex, age, diabetes duration, concurrent HbA1c and hypertension, neither haplogroups H1, H2, UK, K or JT were associated with any DR, NPDR, PDR or DME.

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