González María Del Mar, Santos Cristina, Alarcón Carlos, Ramos Amanda, Cos Mònica, Catalano Giulio, Acebes Juan José, Aluja Maria Pilar
Unitat d'Antropologia Biològica, Departament de Biologia Animal, Biologia Vegetal i Ecologia, Universitat Autònoma de Barcelona, Cerdanyola del Vallès, Barcelona, Spain; GREAB - Research Group in Biological Anthropology, Generalitat de Catalunya, Spain.
Servicio de Neurocirugía, Hospital Universitari Mútua Terrassa, Terrassa, Barcelona, Spain; Servicio de Neurocirugía, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain.
Mitochondrion. 2021 May;58:95-101. doi: 10.1016/j.mito.2021.02.013. Epub 2021 Mar 4.
The presence of different sets of mitochondrial polymorphisms generated by the accumulation of mutations in different maternal lineages has allowed differentiating mitochondrial haplogroups in human populations. These polymorphisms, in turn, may have effects at the phenotypic level, considering a possible contribution of these germinal mutations to the development of certain diseases such as cancer. The main goal of the present study is to establish a possible association between mitochondrial haplogroups and the risk of suffering glioma. Blood samples were obtained from 32 patients from Catalonia (Spain) diagnosed with different grades of glioma (II, III and IV), according to the World Health Organization. The mitochondrial genome was amplified and sequenced using MiSeq 2000 (Illumina). The HaploGrep tool implemented in mtDNA-Server v.1.0.5 was used for the identification of mitochondrial haplogroups. Data obtained in the present study was further pooled with data from previous European studies including glioma patients from Galicia (Spain) and Italy. Results for the Catalonian samples showed an association between individuals with haplogroup J and the increased risk of suffering glioma, with a significant increase of the frequency of individuals with this haplogroup (25%) regarding the general population (7%). Combining different sets of patients with European origin, it appears that individuals with haplogroups J and T have a significantly higher risk of suffering glioma (p < 0.001; OR: 2.407 and p = 0.007; OR: 1.82, respectively). This is the first study that establishes an association between different mitochondrial haplogroups and the risk of suffering glioma, highlighting the role of mitochondrial variants in this disease.
不同母系谱系中突变积累产生的不同线粒体多态性组合的存在，使得在人类群体中区分线粒体单倍群成为可能。考虑到这些生殖细胞突变可能对某些疾病（如癌症）的发展有贡献，这些多态性反过来可能在表型水平上产生影响。本研究的主要目的是确定线粒体单倍群与患胶质瘤风险之间可能存在的关联。根据世界卫生组织的标准，从西班牙加泰罗尼亚的32例被诊断为不同级别胶质瘤（II级、III级和IV级）的患者中采集了血液样本。使用MiSeq 2000（Illumina）对线粒体基因组进行扩增和测序。使用mtDNA-Server v.1.0.5中实现的HaploGrep工具来鉴定线粒体单倍群。本研究获得的数据进一步与之前欧洲研究的数据合并，这些研究包括来自西班牙加利西亚和意大利的胶质瘤患者。加泰罗尼亚样本的结果显示，单倍群J的个体与患胶质瘤风险增加之间存在关联，该单倍群个体的频率（25%）相对于普通人群（7%）有显著增加。将不同组的欧洲裔患者合并后发现，单倍群J和T的个体患胶质瘤的风险显著更高（分别为p < 0.001；OR：2.407和p = 0.007；OR：1.82）。这是第一项确定不同线粒体单倍群与患胶质瘤风险之间存在关联的研究，突出了线粒体变异在这种疾病中的作用。
