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

Research output: Contribution to journalArticlepeer-review

21 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)4598-4602
Number of pages5
JournalInvestigative Ophthalmology and Visual Science
Issue number11
Publication statusPublished - 1 Sept 2018


Dive into the research topics of 'Mitochondrial DNA variation and disease susceptibility in primary open-angle glaucoma'. Together they form a unique fingerprint.

Cite this