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

Jeffrey A. Canter, Lana M. Olson, Kylee Spencer, Nathalie Schnetz-Boutaud, Brent Anderson, Michael A. Hauser, Silke Schmidt, Eric A. Postel, Anita Agarwal, Margaret A. Pericak-Vance, Paul Sternberg, Jonathan L. Haines

Research output: Contribution to journalArticlepeer-review

84 Scopus citations


The objective of this study was to determine if MTNS2*lhgon4917G (4917G), a specific non-synonymous polymorphism ion the mitochodrial genome previously associated with neorodegenerative phenotypes, is associated with increased risk for age-related macular degeneration (AMD). A preliminary study of 393 individuals (293 cases and 100 controls) ascertained at Vanderbilt revealed an increased occurence of 4917G in cases compared to controls (15.4% vs.9.,0%, p=0.11). Since there was a significant age difference between cases and controls in this initial analysis, we extnded sturly selecting Caucasian pairs matched at the exact age art examination. From the 1547 individuals in the Vanderbilt/Duke AMD population association study (including 157 in the prliminary study), we were able to match 560 (280 cases and 280 unaffected) on exact age at examination. This study population was genotyped for 4917G plus specific AMD-associated nuclear genome polymorphisms in CFH, LOC387715 and ApoE. Following adjustment for the listed nuclear genome polymorphisms, 4917G independently predicts the presence of AMD (OR = 2.16, 95%Cl 1.20-3.91, p=0.01). In conclusion, a specific mitochondrial polymorphism previously implicated in other neurodegenerative phenotypes (4917G) appears to convey risk for AMD independent of recently discovered nuclear DNA polymorphisms.

Original languageEnglish (US)
Article numbere2091
JournalPloS one
Issue number5
StatePublished - May 7 2008

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)
  • General


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