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

BMC Medical Genetics. 2009;10(1):35 DOI 10.1186/1471-2350-10-35


Journal Homepage

Journal Title: BMC Medical Genetics

ISSN: 1471-2350 (Online)

Publisher: BMC

LCC Subject Category: Medicine: Internal medicine | Science: Biology (General): Genetics

Country of publisher: United Kingdom

Language of fulltext: English

Full-text formats available: PDF, HTML



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


Open peer review

Editorial Board

Instructions for authors

Time From Submission to Publication: 22 weeks


Abstract | Full Text

<p>Abstract</p> <p>Background</p> <p>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.</p> <p>Methods</p> <p>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.</p> <p>Results</p> <p>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).</p> <p>Conclusion</p> <p>Our data indicate that the mtDNA haplogroup T is associated with CAD and diabetic retinopathy in Middle European Caucasian populations.</p>