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

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Singh, LN, Crowston, JG, Lopez Sanchez, MIG, Van Bergen, NJ, Kearns, LS, Hewitt, AW ORCID: 0000-0002-5123-5999, Yazar, S, Mackey, DA, Wallace, DC and Trounce, IA 2018 , 'Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma' , Investigative Ophthalmology & Visual Science, vol. 59, no. 11 , pp. 4598-4602 , doi: 10.1167/iovs.18-25085.

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Abstract

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 Type: Article
Authors/Creators: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
Keywords: glaucoma, mitochondrial DNA (mtDNA), haplogroup
Journal or Publication Title: Investigative Ophthalmology & Visual Science
Publisher: Association for Research in Vision and Ophthalmology
ISSN: 1552-5783
DOI / ID Number: 10.1167/iovs.18-25085
Copyright Information:

Copyright 2018 The AuthorsLicensed under Creative Commons Attribution 4.0 International (CC BY 4.0)https://creativecommons.org/licenses/by/4.0/

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