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Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma


Singh, LN and Crowston, JG and Lopez Sanchez, MIG and Van Bergen, NJ and Kearns, LS and Hewitt, AW and Yazar, S and Mackey, DA and Wallace, DC and Trounce, IA, Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma, Investigative Ophthalmology and Visual Science, 59, (11) pp. 4598-4602. ISSN 1552-5783 (2018) [Refereed Article]


Copyright Statement

Copyright 2018 The Authors Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1167/iovs.18-25085


Purpose: To determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent.

Methods: A case-control comparison of age- and sex-matched cohorts of 90 primary open-angle glaucoma patients and 95 population controls. Full mitochondrial DNA sequences from peripheral blood were generated by next-generation sequencing and compared to the revised Cambridge Reference Sequence to define mitochondrial haplogroups and variants.

Results: Most subjects were of the major European haplogroups H, J, K, U, and T. Logistic regression analysis showed haplogroup U to be significantly underrepresented in male primary open-angle glaucoma subjects (odds ratio 0.25; 95% confidence interval [CI] 0.09-0.67; P = 0.007; Bonferroni multiple testing P = 0.022). Variants in the mitochondrial DNA gene MT-ND2 were overrepresented in the control group (P = 0.005; Bonferroni multiple testing correction P = 0.015).

Conclusions: Mitochondrial DNA ancestral lineages modulate the risk for primary open-angle glaucoma in populations of European descent. Haplogroup U and rare variants in the mitochondrial DNA-encoded MT-ND2 gene may be protective against primary open-angle glaucoma. Larger studies are warranted to explore haplogroup associations with disease risk in different ethnic groups and define biomarkers of primary open-angle glaucoma endophenotypes to target therapeutic strategies.

Item Details

Item Type:Refereed Article
Keywords:glaucoma, mitochondrial DNA (mtDNA), haplogroup
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:128518
Year Published:2018
Deposited By:Menzies Institute for Medical Research
Deposited On:2018-09-27
Last Modified:2022-08-29
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