title: Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study.
abstract: BACKGROUND
  There is strong and consistent evidence that oxidative stress is crucially involved in the development of atherosclerotic vascular disease. Overproduction of reactive oxygen species (ROS) in mitochondria is an unifying mechanism that underlies micro- and macrovascular atherosclerotic disease. Given the central role of mitochondria in energy and ROS production, mitochondrial DNA (mtDNA) is an obvious candidate for genetic susceptibility studies on atherosclerotic processes. We therefore examined the association between mtDNA haplogroups and coronary artery disease (CAD) as well as diabetic retinopathy.
  
  
  METHODS
  This study of Middle European Caucasians included patients with angiographically documented CAD (n = 487), subjects with type 2 diabetes mellitus with (n = 149) or without (n = 78) diabetic retinopathy and control subjects without clinical manifestations of atherosclerotic disease (n = 1527). MtDNA haplotyping was performed using multiplex PCR and subsequent multiplex primer extension analysis for determination of the major European haplogroups. Haplogroup frequencies of patients were compared to those of control subjects without clinical manifestations of atherosclerotic disease.
  
  
  RESULTS
  Haplogroup T was significantly more prevalent among patients with CAD than among control subjects (14.8% vs 8.3%; p = 0.002). In patients with type 2 diabetes, the presence of diabetic retinopathy was also significantly associated with a higher prevalence of haplogroup T (12.1% vs 5.1%; p = 0.046).
  
  
  CONCLUSIONS
  Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.
authors.affiliation: Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, Salzburg, Austria. b.kofler@salk.at
authors.forename: Barbara
authors.initials: B
authors.lastname: Kofler
authors.forename: Edith E
authors.initials: EE
authors.lastname: Mueller
authors.forename: Waltraud
authors.initials: W
authors.lastname: Eder
authors.forename: Olaf
authors.initials: O
authors.lastname: Stanger
authors.forename: Richard
authors.initials: R
authors.lastname: Maier
authors.forename: Martin
authors.initials: M
authors.lastname: Weger
authors.forename: Anton
authors.initials: A
authors.lastname: Haas
authors.forename: Robert
authors.initials: R
authors.lastname: Winker
authors.forename: Otto
authors.initials: O
authors.lastname: Schmut
authors.forename: Bernhard
authors.initials: B
authors.lastname: Paulweber
authors.forename: Bernhard
authors.initials: B
authors.lastname: Iglseder
authors.forename: Wilfried
authors.initials: W
authors.lastname: Renner
authors.forename: Martina
authors.initials: M
authors.lastname: Wiesbauer
authors.forename: Irene
authors.initials: I
authors.lastname: Aigner
authors.forename: Danijela
authors.initials: D
authors.lastname: Santic
authors.forename: Franz A
authors.initials: FA
authors.lastname: Zimmermann
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D001317:Austria; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003930:Diabetic Retinopathy / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide
chemical_list: D004272:DNA, Mitochondrial