Abstract
PurposeTo determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent.MethodsA 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.ResultsMost 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).ConclusionsMitochondrial 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.
Highlights
To determine whether mitochondrial DNA haplogroups or rare variants associate with primary open-angle glaucoma in subjects of European descent
Haplogroup U and rare variants in the mitochondrial DNA-encoded MT-ND2 gene may be protective against primary open-angle glaucoma
Primary open-angle glaucoma (POAG) is a heterogenous disease grouping associated with selective loss of retinal ganglion cells and is a leading cause of blindness worldwide
Summary
A case–control comparison of age- and sex-matched cohorts of 90 primary openangle glaucoma patients and 95 population controls. Inclusion criteria for the study were as follows: evidence of glaucomatous optic neuropathy identified by loss of the neuroretinal rim and retinal nerve fiber layer loss, and corresponding visual field defect and open angles on gonioscopy. All patients and population controls underwent a detailed medical history and slit-lamp biomicroscopy as well as blood sampling for lymphocyte DNA isolation. Subjects with congenital angle-closure glaucoma, trauma-associated secondary glaucoma, or neovascular glaucoma were excluded. The study adhered to the tenets of the Declaration of Helsinki; institutional human ethics committee (Royal Victorian Eye and Ear Hospital) approval was granted, and written informed consent was acquired from all patients
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
