The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations.
The mitochondrial T16189C polymorphism is associated with coronary artery disease in Middle European populations.
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DOI：
10.1371/journal.pone.0016455
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发表时间：
2011-01-26
期刊：
影响因子：
3.7
通讯作者：
Kofler B
中科院分区：
文献类型：
--
作者：
Mueller EE;Eder W;Ebner S;Schwaiger E;Santic D;Kreindl T;Stanger O;Paulweber B;Iglseder B;Oberkofler H;Maier R;Mayr JA;Krempler F;Weitgasser R;Patsch W;Sperl W;Kofler B
线粒体在能量产生和自由基产生中的关键作用表明线粒体基因组可能对多因素年龄相关疾病的表达具有重要影响。线粒体DNA（mtDNA）控制区（CR）高变D环16189位碱基T替换为C引起了研究兴趣，因为它可能与多种多因素疾病有关。本研究的目的是比较两个研究中心的冠状动脉疾病（CAD，n = 482）和2型糖尿病（T2DM，n = 505）患者与奥地利中欧血统的健康个体（n = 1481）mtDNA CR中该多态性的频率。 CR多态性和9个主要的欧洲单倍型群，分别通过DNA测序和引物延伸分析。计算病例和对照之间关联的频率和比值比。与健康对照组相比，T16189C在CAD患者（11.8% vs 21.6%）和T2DM患者（11.8% vs 19.4%）中的患病率显著更高。在校正年龄、性别和体重指数（BMI）后，CAD与T16189 C的相关性（而非T2DM）仍然非常显著，并且与两个研究中心无关。我们的研究结果首次显示了中欧人群中T16189C与CAD的显著相关性。如其他研究所报告，在T2DM患者中，欧洲血统个体与T16189C的相关性仍然存在疑问。
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. 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. 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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DOI：
10.1196/annals.1338.007
发表时间：
2005-01-01
期刊：
ROLE OF THE MITOCHONDRIA IN HUMAN AGING AND DISEASE: FROM GENES TO CELL SIGNALING
影响因子：
--
作者：
Lin, TK;Chen, SD;Liou, CW
通讯作者：
Liou, CW
影响因子：
4
作者：
Livesey, KJ;Wimhurst, VLC;Robson, KJH
通讯作者：
Robson, KJH
影响因子：
5.3
作者：
Bhat, Audesh;Koul, Anil;Bamezai, R. N. K.
通讯作者：
Bamezai, R. N. K.
影响因子：
3.5
作者：
Gill-Randall, R;Sherratt, EJ;Alcolado, JC
通讯作者：
Alcolado, JC
影响因子：
2.2
作者：
Liao, Wen-Qiang;Pang, Yan;Li, Xiao-Hui
通讯作者：
Li, Xiao-Hui