title: Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration.
abstract: OBJECTIVE
  Age-related macular degeneration (AMD) is a multifactorial disease involving genetic and environmental factors. Most of the genetic factors identified so far involve the nuclear genome. Recently, two studies in North America and Australia reported an association between advanced AMD and the mitochondrial T2 haplogroup. Our purpose was to assess this association in a large French population.
  
  
  METHODS
  This case control study included 1,224 patients with neovascular AMD and 559 controls with normal fundus. Mitochondrial DNA polymorphisms at and around nucleotides 4917, 11,812, and 14,233 were determined using PCR amplification and direct sequencing of mitochondrial DNA.
  
  
  RESULTS
  No association was found between the mitochondrial T2 haplogroup and neovascular AMD in the French population: 94/1,152 patients with neovascular AMD had the T2 haplogroup (8.2%) versus 34/482 controls (7.1%; odds ratio=0.9 [0.5-1.5], p=0.66).
  
  
  CONCLUSIONS
  An association between AMD and the T2 haplogroup, previously described in North American and Australian populations, was not confirmed in a large French population.
authors.affiliation: Department of Ophthalmology, Hôpital Intercommunal de Creteil, University of Paris Est Creteil, France.
authors.forename: Julien
authors.initials: J
authors.lastname: Tilleul
authors.forename: Florence
authors.initials: F
authors.lastname: Richard
authors.forename: Nathalie
authors.initials: N
authors.lastname: Puche
authors.forename: Jennyfer
authors.initials: J
authors.lastname: Zerbib
authors.forename: Nicolas
authors.initials: N
authors.lastname: Leveziel
authors.forename: Jose Alain
authors.initials: JA
authors.lastname: Sahel
authors.forename: Salomon Yves
authors.initials: SY
authors.lastname: Cohen
authors.forename: Jean-Francois
authors.initials: JF
authors.lastname: Korobelnik
authors.forename: Josue
authors.initials: J
authors.lastname: Feingold
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Eric H
authors.initials: EH
authors.lastname: Souied
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D020256:Choroidal Neovascularization / Q000150:complications* / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics; D003710:Demography; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000235:genetics*; D008297:Male; D008928:Mitochondria / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic
chemical_list: D004272:DNA, Mitochondrial