Laboratory of Genetic Identification, Legal Medicine and Toxicology Department, Facultad de Medicina, Universidad de Granada, Granada, Spain.
PLoS One. 2012;7(7):e41201. doi: 10.1371/journal.pone.0041201. Epub 2012 Jul 17.
It is known that mitochondria play an important role in certain cancers (prostate, renal, breast, or colorectal) and coronary disease. These organelles play an essential role in apoptosis and the production of reactive oxygen species; in addition, mtDNA also reveals the history of populations and ancient human migration. All these events and variations in the mitochondrial genome are thought to cause some cancers, including prostate cancer, and also help us to group individuals into common origin groups. The aim of the present study is to analyze the different haplogroups and variations in the sequence in the mitochondrial genome of a southern European population consisting of subjects affected (n = 239) and non-affected (n = 150) by sporadic prostate cancer.
Using primer extension analysis and DNA sequencing, we identified the nine major European haplogroups and CR polymorphisms. The frequencies of the haplogroups did not differ between patients and control cohorts, whereas the CR polymorphism T16356C was significantly higher in patients with PC compared to the controls (p = 0.029). PSA, staging, and Gleason score were associated with none of the nine major European haplogroups. The CR polymorphisms G16129A (p = 0.007) and T16224C (p = 0.022) were significantly associated with Gleason score, whereas T16311C (p = 0.046) was linked with T-stage.
Our results do not suggest that mtDNA haplogroups could be involved in sporadic prostate cancer etiology and pathogenesis as previous studies performed in middle Europe population. Although some significant associations have been obtained in studying CR polymorphisms, further studies should be performed to validate these results.
已知线粒体在某些癌症（前列腺癌、肾癌、乳腺癌或结肠癌）和冠心病中发挥着重要作用。这些细胞器在细胞凋亡和活性氧物质的产生中起着至关重要的作用；此外，线粒体 DNA 还揭示了种群和古代人类迁移的历史。所有这些事件和线粒体基因组的变异都被认为会导致某些癌症，包括前列腺癌，并且还帮助我们将个体分组到常见的起源群体中。本研究旨在分析由患有（n = 239）和未患（n = 150）散发性前列腺癌的受试者组成的南欧人群中线粒体基因组中的不同单倍群和序列变异。
使用引物延伸分析和 DNA 测序，我们确定了欧洲的九个主要单倍群和 CR 多态性。患者和对照组之间的单倍群频率没有差异，而 CR 多态性 T16356C 在患有 PC 的患者中明显高于对照组（p = 0.029）。PSA、分期和 Gleason 评分与九个主要欧洲单倍群均无关联。CR 多态性 G16129A（p = 0.007）和 T16224C（p = 0.022）与 Gleason 评分显著相关，而 T16311C（p = 0.046）与 T 期相关。
我们的结果表明，线粒体 DNA 单倍群可能不会像以前在中欧人群中进行的研究那样参与散发性前列腺癌的病因和发病机制。虽然在研究 CR 多态性时获得了一些显著的关联，但应进一步进行研究以验证这些结果。
