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

• Published in: BMC medical genetics Vol. 10; no. 1; p. 35
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: London BioMed Central 21.04.2009; BioMed Central Ltd; BMC
• Subjects: Aged; Aged, 80 and over; Austria; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Coronary Artery Disease - genetics; Coronary heart disease; Cytogenetics; Diabetic retinopathy; Diabetic Retinopathy - genetics; DNA, Mitochondrial - genetics; Female; Gene Frequency; Gene Function; Genetic aspects; Genetic Predisposition to Disease; Haplotypes; Human Genetics; Humans; Male; Middle Aged; Mitochondrial DNA; Odds Ratio; Physiological aspects; Polymorphism, Single Nucleotide; Research Article; Risk factors; Austria; Coronary Artery Disease Patient; Proliferative Diabetic Retinopathy; Coronary Artery Disease; Reactive Oxygen Species Production; Diabetic Retinopathy
• ISSN: 1471-2350; 1471-2350
• DOI: 10.1186/1471-2350-10-35

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.