Mitochondrial DNA copy number as a phenotypic trait for human diseases in genetic epidemiological studies

细胞含有一种叫做线粒体的元素。线粒体含有自己的DNA （mtDNA）。这种DNA的变异与疾病有关。受mtDNA影响的疾病包括肥胖、糖尿病和高脂血症。然而，mtDNA的两个方面尚未得到充分的探索。第一个方面是分析细胞中存在的mtDNA拷贝数与人类健康特征的关系。二是研究mtDNA的拷贝数是否由核基因决定。我们的项目旨在研究mtDNA拷贝数是否与肥胖、糖尿病、高脂血症和认知功能相关的性状有关。我们还旨在确定控制mtDNA拷贝数的核基因。为此，我们将确定一个种群样本的20,000个人中每个人的mtDNA拷贝数（雅芳父母和儿童纵向研究，ALSPAC）。该项目的研究结果将有助于肥胖、糖尿病、高脂血症和认知风险特征的研究。这将代表新的知识和对改善人类健康的潜在益处。

Cells contain elements called mitochondria. Mitochondria contain their own DNA (mtDNA). Variation in this DNA is related to disease. Diseases influenced by mtDNA include obesity, diabetes and hyperlipidemia. However, two aspects of mtDNA are underexplored. The first aspect is the analysis of the number of copies of mtDNA present in cells in relation to human health traits. The second aspect is to study whether thenumber of copies of mtDNA is determined by nuclear genes. Our project aims to study whether the number of copies of mtDNA associate with traits related to obesity, diabetes, hyperlipidemia and cognitive function. We also aim to identify nuclear genes controlling the number of copies of mtDNA. To this end, we will determine the number of copies of mtDNA in each of the 20,000 individuals of one population sample (Avon Longitudinal Study of Parents and Children, ALSPAC). The results from this project would contribute to the study of obesity, diabetes, hyperlipidemia and cognitive risk traits. This would represent new knowledge and potential benefit for improving human health.