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Mitochondrial DNA polymorphism A4917G is independently associated with age-related macular degeneration

Jeffrey A Canter1, Lana M Olson, Kylee Spencer

  • 1Center for Human Genetics Research, Department of Molecular Physiology and Biophysics, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America. jeff.canter@vanderbilt.edu

Plos One
|May 8, 2008
PubMed

Insights

A mitochondrial DNA variant, MTND2*LHON4917G, is linked to an increased risk of age-related macular degeneration (AMD). This finding holds true even when accounting for known genetic factors in the nuclear genome.

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Age-related macular degeneration (AMD) is a leading cause of vision loss.
  • Mitochondrial DNA (mtDNA) polymorphisms are increasingly recognized for their role in complex diseases.
  • The MTND2*LHON4917G (4917G) variant has been previously associated with neurodegenerative conditions.

Purpose of the Study:

  • To investigate the association between the mitochondrial polymorphism MTND2*LHON4917G (4917G) and the risk of developing age-related macular degeneration (AMD).
  • To determine if 4917G confers AMD risk independently of established nuclear gene risk factors.

Main Methods:

  • A case-control study involving Caucasian individuals from the Vanderbilt/Duke AMD population association study.
  • Genotyping for the mitochondrial 4917G variant and nuclear polymorphisms in CFH, LOC387715, and ApoE.
  • Statistical analysis using logistic regression, adjusting for age and nuclear genotypes.

Main Results:

  • The 4917G variant showed a higher prevalence in AMD cases (15.4%) compared to controls (9.0%) in an initial analysis (p=0.11).
  • After matching for age and adjusting for nuclear polymorphisms, 4917G independently predicted AMD risk (OR = 2.16, 95%CI 1.20-3.91, p = 0.01).

Conclusions:

  • The mitochondrial polymorphism MTND2*LHON4917G (4917G) is an independent risk factor for age-related macular degeneration (AMD).
  • This finding suggests a role for mitochondrial dysfunction in AMD pathogenesis, separate from nuclear genetic influences.

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