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The role of mitochondrial haplogroups in primary open angle glaucoma
  1. R Andrews1,
  2. T Ressiniotis1,
  3. D M Turnbull2,
  4. M Birch1,
  5. S Keers2,
  6. P F Chinnery2,
  7. P G Griffiths1
  1. 1Department of Ophthalmology, Royal Victoria Infirmary, Newcastle upon Tyne, UK
  2. 2Department of Neurology, The Medical School, The University of Newcastle upon Tyne, UK
  1. Correspondence to: Dr P F Chinnery Neurology, The Medical School, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK; p.f.chinnery{at}ncl.ac.uk

Abstract

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.

  • IOP, intraocular pressure
  • LHON, Leber’s hereditary optic neuropathy
  • mtDNA, mitochondrial DNA
  • PCR, polymerase chain reaction
  • PD, Parkinson’s disease
  • POAG, primary open angle glaucoma
  • SNPs, single nucleotide polymorphisms
  • glaucoma
  • genetics
  • mitochondria
  • haplogroups
  • IOP, intraocular pressure
  • LHON, Leber’s hereditary optic neuropathy
  • mtDNA, mitochondrial DNA
  • PCR, polymerase chain reaction
  • PD, Parkinson’s disease
  • POAG, primary open angle glaucoma
  • SNPs, single nucleotide polymorphisms
  • glaucoma
  • genetics
  • mitochondria
  • haplogroups

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