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Article

Protein truncating variants in mitochondrial-related nuclear genes and the risk of chronic liver disease.

BMC medicine - 11 Jun 2024

Yuan Huangbo, Liu Zhenqiu, Chen Mingyang, Xu Qiaoyi, Jiang Yanfeng, Zhang Tiejun, Suo Chen, Chen Xingdong

Abstract excerpt

BACKGROUND: Mitochondrial (MT) dysfunction is a hallmark of liver diseases. However, the effects of functional variants such as protein truncating variants (PTVs) in MT-related genes on the risk of liver diseases have not been extensively explored. METHODS: We extracted 60,928 PTVs across 2466 MT-related nucleus genes using whole-exome sequencing data obtained from 442,603 participants in the UK Biobank. We...

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Identifiers

PMID: 38862964
DOI: 10.1186/s12916-024-03466-0
PMCID: PMC11167739

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