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Stuart J Cannon¹, Timothy Hall¹, Gareth Hawkes¹

¹Department of Clinical and Biomedical Sciences, University of Exeter, 79 Heavitree Road, Exeter, EX2 4TH, United Kingdom.

Human molecular genetics

|November 21, 2023

概括

英国生物库的全基因组测序显示,大多数致病性线粒体变体在一般人群中透率较低. 然而,m.3243A>G变种在较高水平上显著增加糖尿病,聋和心力衰竭的风险.

科学领域:

遗传学和基因组学遗传学和基因组学
线粒体生物学线粒体生物学
人口健康人口健康

背景情况:

线粒体DNA (mtDNA) 变体可以引起疾病,但它们在未经选择的人群中的透程度尚不清楚.
全基因组测序 (WGS) 提供了一个强大的工具来研究罕见的变异及其对大群体健康的影响.

研究的目的:

评估罕见和致病性线粒体变异的透性和表达性,在一个大规模的,临床上未经选择的人群中.
使用WGS数据识别mtDNA变体和线粒体疾病相关的表型之间的关联.

主要方法:

分析了来自179,862名英国生物库参与者的WGS数据.
对15881种mtDNA变体和73种已知的致病变体进行了对15种疾病相关表型的关联分析.
调查的单个和聚合的罕见变异关联.

主要成果:

确定了12种同质细胞和一种异质细胞 (m.3243A>G) 变异,具有全基因组显著的关联.
致病性m.3243A>G变异与糖尿病,聋和心力衰竭的风险增加有关,特别是在异质体水平≥10%时.
大多数已知的致病性线粒体变体是罕见的,并且在这个未经选择的队列中显示出低透率.

结论:

致病性线粒体变异通常在临床上未经选择的个体中表现出低透率.
m.3243A>G变种是一个显著的例外,在更高的异质体水平上显示出实质性的健康影响,是偶然报告的候选人.
大队伍中的WGS对于了解线粒体变异对人口水平的影响至关重要.

关键词:

母亲遗传的糖尿病和聋.线粒体中的线粒体.线粒体疾病线粒体疾病英国生物银行.

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