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

Ebony Liu; Georgia Kaidonis; Mark C. Gillies; Sotoodeh Abhary; Rohan W. 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 E. Craig

doi:10.1038/s41598-018-37388-8

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

Ebony Liu^*, Georgia Kaidonis, Mark C. Gillies, Sotoodeh Abhary, Rohan W. 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 E. Craig

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

5 Citations (Scopus)

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 language	English
Article number	612
Journal	Scientific Reports
Volume	9
Issue number	1
DOIs	https://doi.org/10.1038/s41598-018-37388-8
Publication status	Published - 1 Dec 2019

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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), Article 612. https://doi.org/10.1038/s41598-018-37388-8

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

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.",

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

note = "Publisher Copyright: {\textcopyright} 2019, The Author(s).",

year = "2019",

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doi = "10.1038/s41598-018-37388-8",

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Liu, E, Kaidonis, G, Gillies, MC, Abhary, S, Essex, RW, Chang, JH, Pal, B, Daniell, M, Lake, S, Gilhotra, J, Petrovsky, N, Hewitt, AW, Jenkins, A, Lamoureux, EL, Gleadle, JM, Burdon, KP & Craig, JE 2019, 'Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample', Scientific Reports, vol. 9, no. 1, 612. https://doi.org/10.1038/s41598-018-37388-8

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T1 - Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

AU - Liu, Ebony

AU - Kaidonis, Georgia

AU - Gillies, Mark C.

AU - Abhary, Sotoodeh

AU - Essex, Rohan W.

AU - Chang, John H.

AU - Pal, Bishwanath

AU - Daniell, Mark

AU - Lake, Stewart

AU - Gilhotra, Jolly

AU - Petrovsky, Nikolai

AU - Hewitt, Alex W.

AU - Jenkins, Alicia

AU - Lamoureux, Ecosse L.

AU - Gleadle, Jonathan M.

AU - Burdon, Kathryn P.

AU - Craig, Jamie E.

PY - 2019/12/1

Y1 - 2019/12/1

N2 - 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.

AB - 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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DO - 10.1038/s41598-018-37388-8

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SN - 2045-2322

VL - 9

JO - Scientific Reports

JF - Scientific Reports

IS - 1

M1 - 612

ER -

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

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