title: Mitochondrial haplogroup U is associated with a reduced risk to develop exfoliation glaucoma in the German population.
abstract: BACKGROUND
  Various lines of evidence demonstrate the involvement of mitochondrial dysfunction in the pathogenesis of glaucoma. Therefore, mitochondrial DNA is a promising candidate for genetic susceptibility studies on glaucoma. To test the hypothesis that mitochondrial haplogroups influence the risk to develop glaucoma, we genotyped 12 single-nucleotide polymorphisms that define the European mitochondrial DNA haplogroups in healthy controls and two German patient cohorts with either exfoliation glaucoma or the normal tension subgroup of primary open angle glaucoma.
  
  
  RESULTS
  Mitochondrial haplogroup U was significantly under-represented in patients with exfoliation glaucoma (8.3% compared with 18.9% in controls; p = 0.004).
  
  
  CONCLUSIONS
  People with haplogroup U have a lower risk to develop exfoliation glaucoma. Our results substantiate the suggestion that mitochondrial alterations have an impact on the etiology of glaucoma.
authors.affiliation: Centre for Ophthalmology, Institute for Ophthalmic Research, Tuebingen, Germany.
authors.forename: Christiane
authors.initials: C
authors.lastname: Wolf
authors.forename: Eugen
authors.initials: E
authors.lastname: Gramer
authors.forename: Bertram
authors.initials: B
authors.lastname: Müller-Myhsok
authors.forename: Francesca
authors.initials: F
authors.lastname: Pasutto
authors.forename: Bernd
authors.initials: B
authors.lastname: Wissinger
authors.forename: Nicole
authors.initials: N
authors.lastname: Weisschuh
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D017889:Exfoliation Syndrome / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D012307:Risk Factors; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial