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

Ebony Liu, Georgia Kaidonis, Mark Gillies, Sotoodeh Abhary, Rohan Essex, John H Chang, Bishwanath Pal, Mark Daniell, Stewart Lake, Jolly Gilhotra, Nikolai Petrovsky, Alex W Hewitt, Alicia Jenkins, Ecosse L Lamoureux, Jonathan M Gleadle, Kathryn P Burdon, Jamie Craig

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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.

Original languageEnglish
Article number612
Number of pages7
JournalScientific Reports
Volume9
Issue number1
DOIs
Publication statusPublished - 24 Feb 2019

Keywords

  • Mitochondrial haplogroup
  • diabetic retinopathy
  • Australian
  • British
  • caucasian sample

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    Liu, E., Kaidonis, G., Gillies, M., Abhary, S., Essex, R., 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. (2019). Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample. Scientific Reports, 9(1), [612]. https://doi.org/10.1038/s41598-018-37388-8