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The role of mitochondrial haplogroups in primary open angle glaucoma

Lookup NU author(s): Dr Richard Andrews, Emeritus Professor Doug Turnbull, Michael Birch, Sharon Foster, Professor Patrick Chinnery, Philip Griffiths


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Aim: To investigate a possible association between mitochondrial haplogroups and primary open angle glaucoma (POAG). Methods: Genomic DNA was extracted from 140 POAG patients and 75 healthy individuals. Restriction enzyme digest analysis of polymerase chain reaction (PCR) amplified fragments was used to determine the mitochondrial haplogroup of each patient and control. Results: The median age was 73 years for the POAG patients (range 51-87, SD 8.01) and 78 years for the controls (range 68-90, SD 4.4). Mean IOP was 20.8 mm Hg for the patients (SD 2.6) and 16.2 mm Hg for the controls (SD 3.4). Median cup/disc ratio was 0.8 and 0.3 for patients and controls respectively. No statistically significant difference was found in the haplogroup distribution between the POAG patients and the healthy individuals (Fisher's exact test). Conclusion: In this cohort, mitochondrial haplogroups do not appear to contribute to the pathogenesis of POAG.

Publication metadata

Author(s): Andrews R, Ressiniotis T, Turnbull DM, Birch M, Keers S, Chinnery PF, Griffiths PG

Publication type: Article

Publication status: Published

Journal: British Journal of Ophthalmology

Year: 2006

Volume: 90

Issue: 4

Pages: 488-490

ISSN (print): 0007-1161

ISSN (electronic): 1468-2079

Publisher: BMJ Group


DOI: 10.1136/bjo.2005.084335

PubMed id: 16547333


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