BMC Medical Genetics (Apr 2009)

Mitochondrial DNA haplogroup T is associated with coronary artery disease and diabetic retinopathy: a case control study

  • Kofler Barbara,
  • Mueller Edith E,
  • Eder Waltraud,
  • Stanger Olaf,
  • Maier Richard,
  • Weger Martin,
  • Haas Anton,
  • Winker Robert,
  • Schmut Otto,
  • Paulweber Bernhard,
  • Iglseder Bernhard,
  • Renner Wilfried,
  • Wiesbauer Martina,
  • Aigner Irene,
  • Santic Danijela,
  • Zimmermann Franz A,
  • Mayr Johannes A,
  • Sperl Wolfgang

DOI
https://doi.org/10.1186/1471-2350-10-35
Journal volume & issue
Vol. 10, no. 1
p. 35

Abstract

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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). Conclusion Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.