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

线粒体DNA拷贝数作为遗传流行病学研究中人类疾病的表型特征

• 批准号: MR/K002767/1
• 负责人: Santiago Rodriguez
• 金额: $ 48.93万
• 依托单位: University of Bristol
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2013
• 资助国家: 英国
• 起止时间: 2013 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FK002767%2F1
• 关键词: Mitochondrial; DNA; copy; number; phenotypic

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.

细胞含有称为线粒体的元素。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症、糖尿病和高脂血症。然而，线粒体DNA的两个方面还没有得到充分的研究。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。第二个方面是研究mtDNA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相关。我们的目标还在于确定控制mtDNA拷贝数的核基因。为此，我们将确定一个人口样本的20，000个个体中每个个体的mtDNA拷贝数（雅芳父母和子女纵向研究，ALSPAC）。本研究的结果将有助于肥胖、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改善人类健康的潜在利益。

项目成果

Molecular genetic epidemiology studies of quantitative nucleic acid markers

定量核酸标记物的分子遗传流行病学研究

• 发表时间: 2015
• 作者: []

Using Y-Chromosomal Haplogroups in Genetic Association Studies and Suggested Implications.

• DOI: 10.3390/genes9010045
• 发表时间: 2018-01-22
• 期刊: Genes
• 影响因子: 3.5
• 作者: Erzurumluoglu AM;Baird D;Richardson TG;Timpson NJ;Rodriguez S
• 通讯作者: Rodriguez S

Cardiometabolic phenotypes and mitochondrial DNA copy number in two cohorts of UK women.

• DOI: 10.1016/j.mito.2017.08.007
• 发表时间: 2018-03
• 期刊: Mitochondrion
• 影响因子: 4.4
• 作者: Guyatt AL;Burrows K;Guthrie PAI;Ring S;McArdle W;Day INM;Ascione R;Lawlor DA;Gaunt TR;Rodriguez S
• 通讯作者: Rodriguez S

Haptoglobin duplicon, hemoglobin, and vitamin C: analyses in the british women's heart and health study and Caerphilly prospective study.

• DOI: 10.1155/2014/529456
• 发表时间: 2014
• 期刊: Disease markers
• 作者: Guthrie PA;Abdollahi MR;Gaunt T;Lawlor DA;Ben-Shlomo Y;Gallacher J;Davey Smith G;Day IN;Rodriguez S
• 通讯作者: Rodriguez S

A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts

两个基于人群的队列中线粒体 DNA 拷贝数的全基因组关联研究

• DOI: 10.1101/372177
• 发表时间: 2018
• 作者: Guyatt A