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. 2011 Jan 26;6(1):e16455.
doi: 10.1371/journal.pone.0016455.

The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations

Edith E Mueller  1 , Waltraud Eder, Sabine Ebner, Eva Schwaiger, Danijela Santic, Tanja Kreindl, Olaf Stanger, Bernhard Paulweber, Bernhard Iglseder, Hannes Oberkofler, Richard Maier, Johannes A Mayr, Franz Krempler, Raimund Weitgasser, Wolfgang Patsch, Wolfgang Sperl, Barbara Kofler
Affiliations

The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations

Edith E Mueller et al. PLoS One. .

Abstract

Background: The pivotal role of mitochondria in energy production and free radical generation suggests that the mitochondrial genome could have an important influence on the expression of multifactorial age related diseases. Substitution of T to C at nucleotide position 16189 in the hypervariable D-loop of the control region (CR) of mitochondrial DNA (mtDNA) has attracted research interest because of its suspected association with various multifactorial diseases. The aim of the present study was to compare the frequency of this polymorphism in the CR of mtDNA in patients with coronary artery disease (CAD, n = 482) and type 2 diabetes mellitus (T2DM, n = 505) from two study centers, with healthy individuals (n = 1481) of Middle European descent in Austria.

Methodology and principal findings: CR polymorphisms and the nine major European haplogroups were identified by DNA sequencing and primer extension analysis, respectively. Frequencies and Odds Ratios for the association between cases and controls were calculated. Compared to healthy controls, the prevalence of T16189C was significantly higher in patients with CAD (11.8% vs 21.6%), as well as in patients with T2DM (11.8% vs 19.4%). The association of CAD, but not the one of T2DM, with T16189C remained highly significant after correction for age, sex and body mass index (BMI) and was independent of the two study centers.

Conclusions and significance: Our results show for the first time a significant association of T16189C with CAD in a Middle European population. As reported in other studies, in patients with T2DM an association with T16189C in individuals of European decent remains questionable.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. MtDNA CR sequence variations around position 16189.
A) Wild-type sequence. B) T16189C polymorphism, causing a poly-C tract with heteroplasmic length variation. C) T16189C polymorphism with an additional polymorphism at position 16192, interrupting the poly-C tract.
See this image and copyright information in PMC

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