AI Article Synopsis
- Mitochondrial dysfunction is a key feature in liver diseases, yet the role of protein truncating variants (PTVs) in mitochondrial-related genes and their effect on liver disease risk is not well understood.
- The study involved analyzing PTVs from over 440,000 participants to assess their correlation with liver dysfunction and related health outcomes.
- Results showed that 96.1% of participants had at least one PTV, with significant associations found between these variants and increased risks for liver fibrosis, cancer, and mortality, underscoring the need for early identification and potential intervention strategies.
Article Abstract
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 examined their associations with liver dysfunction that represented by the liver-related biomarkers and the risks of chronic liver diseases and liver-related mortality.
Results: 96.10% 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.
Conclusions: Our 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11167739 | PMC |
| http://dx.doi.org/10.1186/s12916-024-03466-0 | DOI Listing |
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