Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Mitochondrion. 2011 Sep;11(5):729-34. doi: 10.1016/j.mito.2011.05.008. Epub 2011 May 30.
Mitochondrial DNA (mtDNA) mutations have been implicated in various age-related diseases. To further clarify the role of mtDNA variants in age-related hearing impairment (ARHI), we determined the DNA sequence of the entire mitochondrial genome of 400 individuals using the Affymetrix Human Mitochondrial Resequencing Array. These were the 200 worst hearing and the 200 best hearing from a collection of 947 Belgian samples. We performed association tests with individual mitochondrial variants, comparison of the mutation load, and association with European haplogroups and their interaction with environmental risk factors. We also tested the influence of rare variants on ARHI. None of these tests showed any association with ARHI.
线粒体 DNA（mtDNA）突变与各种与年龄相关的疾病有关。为了进一步阐明 mtDNA 变体在与年龄相关的听力障碍（ARHI）中的作用，我们使用 Affymetrix Human Mitochondrial Resequencing Array 确定了 400 个人的整个线粒体基因组的 DNA 序列。这些是从 947 名比利时样本中收集的 200 名最差听力和 200 名最佳听力的个体。我们对个体线粒体变体进行了关联测试，比较了突变负荷，并与欧洲单倍群及其与环境风险因素的相互作用进行了关联。我们还测试了罕见变体对 ARHI 的影响。这些测试均未显示出与 ARHI 的任何关联。
