Journal article

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

Larry N Singh, Jonathan G Crowston, M Isabel G Lopez Sanchez, Nicole J Van Bergen, Lisa S Kearns, Alex W Hewitt, Seyhan Yazar, David A Mackey, Douglas C Wallace, Ian A Trounce

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | ASSOC RESEARCH VISION OPHTHALMOLOGY INC | Published : 2018

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..

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Grants

Awarded by National Institutes of Health


Awarded by NATIONAL CANCER INSTITUTE


Awarded by NATIONAL INSTITUTE OF MENTAL HEALTH


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

Supported by the DHB Foundation and Equity Trustees (IAT), and National Institutes of Health Grants NS021328, MH108592, CA182384, DO10944, and NS41850 awarded to DCW. The Centre for Eye Research Australia receives operational infrastructure support from the Victorian Government, Australia. SY is supported by a National Health and Medical Research Council CJ Martin Early Career Fellowship.