Evidence map›Paper›PMID 38862964›Full record

ArticleBMC medicine2024

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

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

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Genes · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Huangbo Yuan *State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Sciences, Fudan University, No. 2005 Songhu Road, Shanghai, 200438, China.
Zhenqiu Liu *State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Sciences, Fudan University, No. 2005 Songhu Road, Shanghai, 200438, China.
Mingyang ChenState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Sciences, Fudan University, No. 2005 Songhu Road, Shanghai, 200438, China.
Qiaoyi XuDepartment of Epidemiology, School of Public Health, Fudan University, No. 130 Dongan Road, Shanghai, 200032, China.
Yanfeng JiangState Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Sciences, Fudan University, No. 2005 Songhu Road, Shanghai, 200438, China.
Tiejun ZhangDepartment of Epidemiology, School of Public Health, Fudan University, No. 130 Dongan Road, Shanghai, 200032, China.
Chen Suo *Department of Epidemiology, School of Public Health, Fudan University, No. 130 Dongan Road, Shanghai, 200032, China. suochen@fudan.edu.cn.
Xingdong Chen *State Key Laboratory of Genetic Engineering, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, and School of Life Sciences, Fudan University, No. 2005 Songhu Road, Shanghai, 200438, China. xingdongchen@fudan.edu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMitochondrial (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.

methodsWe 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 examined their associations with liver dysfunction that represented by the liver-related biomarkers and the risks of chronic liver diseases and liver-related mortality.

results96.10% of the total participants carried at least one PTV. We identified 866 PTVs that were positively associated with liver dysfunction at the threshold of P value < 8.21e - 07. The coding genes of these PTVs were mainly enriched in pathways related to lipid, fatty acid, amino acid, and carbohydrate metabolisms. The 866 PTVs were presented in 1.07% (4721) of participants. Compared with participants who did not carry any of the PTVs, the carriers had a 5.33-fold (95% CI 4.15-6.85), 2.82-fold (1.69-4.72), and 4.41-fold (3.04-6.41) increased risk for fibrosis and cirrhosis of liver, liver cancer, and liver disease-related mortality, respectively. These adverse effects were consistent across subgroups based on age, sex, body mass index, smoking status, and presence of hypertension, diabetes, dyslipidemia, and metabolic syndrome.

conclusionsOur findings revealed a significant impact of PTVs in MT-related genes on liver disease risk, highlighting the importance of these variants in identifying populations at risk of liver diseases and facilitating early clinical interventions.

Indexed as

Liver DiseasesAdultAgedChronic DiseaseExome SequencingFemaleGenes, MitochondrialGenetic Predisposition to DiseaseGenetic VariationHumansMaleMiddle AgedUnited KingdomChronic liver diseaseGenetic susceptibilityLiver-related biomarkersMitochondrial dysfunctionProtein truncating variant

Identifiers

PMID38862964
PMCPMC11167739

What Socratic holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.