Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample
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Authors
Liu, Ebony
Kaidonis, Georgia
Gillies, Mark C.
Abhary, Sotoodeh
Essex, Rohan
Chang, John H.
Pal, Bishwanath
Daniell, Mark
Lake, Stewart
Gilhotra, Jolly
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Nature Publishing Group UK
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 fnding 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. Twentytwo 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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Scientific Reports
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Open Access
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