Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia

Background Mitochondrial dysfunction is linked to hyperuricemia (HUA), but its genetic pathophysiology is not yet fully understood. We employed Mendelian randomization (MR) to integrate multi-omics data and explore the associations between mitochondrial-related genes and HUA.Methods We conducted a s...

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Main Authors: Yuechang Hong, Minghui Yang, Xin Xu, Peng Wang, Minqiang Fu, Renying Xiong, Jianjiang OuYang
Format: Article
Language:English
Published: Taylor & Francis Group 2025-12-01
Series:Renal Failure
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Online Access:https://www.tandfonline.com/doi/10.1080/0886022X.2025.2532855
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author Yuechang Hong
Minghui Yang
Xin Xu
Peng Wang
Minqiang Fu
Renying Xiong
Jianjiang OuYang
author_facet Yuechang Hong
Minghui Yang
Xin Xu
Peng Wang
Minqiang Fu
Renying Xiong
Jianjiang OuYang
author_sort Yuechang Hong
collection DOAJ
description Background Mitochondrial dysfunction is linked to hyperuricemia (HUA), but its genetic pathophysiology is not yet fully understood. We employed Mendelian randomization (MR) to integrate multi-omics data and explore the associations between mitochondrial-related genes and HUA.Methods We conducted a summary data-based MR analysis to investigate potential targets associated with HUA by integrating mitochondrial-related DNA methylation, gene expression, and protein quantitative trait loci. Additionally, to further explore the potential associations between DNA methylation, gene expression, and protein abundance, we performed MR and co-localization analyses to examine causal relationships between candidate gene methylation and expression, as well as between gene expression and protein abundance.Result Through the integration of multi-omics evidence, we identified one primary gene, NUDT2, and three secondary genes, BOLA1, COMT, and HAGH. At the protein level, NUDT2 and COMT are negatively correlated with HUA risk, whereas BOLA1 and HAGH are positively correlated with HUA risk. Our analysis revealed a positive correlation between the methylation of cg06605933 in BOLA1 and its protein levels, which aligns with the negative effect of cg06605933 methylation on HUA risk. Additionally, we observed a positive correlation between NUDT2 gene expression and protein levels, confirming its beneficial effect on HUA risk. Strong co-localization support was found between the methylation of cg06605933 (PPH4 = 85.1%) in BOLA1 and protein abundance, as well as between NUDT2 gene expression (PPH4 = 96.6%) and protein levelsConclusion Our study identified mitochondrial genes NUDT2, BOLA1, COMT, and HAGH as potentially associated with HUA risk, supported by evidence from various omics levels.
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spelling doaj-art-369623d756854716959d2c5f3df09ffe2025-08-20T02:50:29ZengTaylor & Francis GroupRenal Failure0886-022X1525-60492025-12-0147110.1080/0886022X.2025.2532855Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemiaYuechang Hong0Minghui Yang1Xin Xu2Peng Wang3Minqiang Fu4Renying Xiong5Jianjiang OuYang6School of Clinical Medicine, Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi Province, People’s Republic of ChinaSchool of Clinical Medicine, Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi Province, People’s Republic of ChinaDepartment of Sports Medicine, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, People’s Republic of ChinaDepartment of Sports Medicine, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, People’s Republic of ChinaSchool of Clinical Medicine, Jiangxi University of Traditional Chinese Medicine, Nanchang, Jiangxi Province, People’s Republic of ChinaDepartment of medicine, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, People’s Republic of ChinaDepartment of Sports Medicine, Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine, Nanchang, People’s Republic of ChinaBackground Mitochondrial dysfunction is linked to hyperuricemia (HUA), but its genetic pathophysiology is not yet fully understood. We employed Mendelian randomization (MR) to integrate multi-omics data and explore the associations between mitochondrial-related genes and HUA.Methods We conducted a summary data-based MR analysis to investigate potential targets associated with HUA by integrating mitochondrial-related DNA methylation, gene expression, and protein quantitative trait loci. Additionally, to further explore the potential associations between DNA methylation, gene expression, and protein abundance, we performed MR and co-localization analyses to examine causal relationships between candidate gene methylation and expression, as well as between gene expression and protein abundance.Result Through the integration of multi-omics evidence, we identified one primary gene, NUDT2, and three secondary genes, BOLA1, COMT, and HAGH. At the protein level, NUDT2 and COMT are negatively correlated with HUA risk, whereas BOLA1 and HAGH are positively correlated with HUA risk. Our analysis revealed a positive correlation between the methylation of cg06605933 in BOLA1 and its protein levels, which aligns with the negative effect of cg06605933 methylation on HUA risk. Additionally, we observed a positive correlation between NUDT2 gene expression and protein levels, confirming its beneficial effect on HUA risk. Strong co-localization support was found between the methylation of cg06605933 (PPH4 = 85.1%) in BOLA1 and protein abundance, as well as between NUDT2 gene expression (PPH4 = 96.6%) and protein levelsConclusion Our study identified mitochondrial genes NUDT2, BOLA1, COMT, and HAGH as potentially associated with HUA risk, supported by evidence from various omics levels.https://www.tandfonline.com/doi/10.1080/0886022X.2025.2532855HyperuricemiaMendelian randomizationmitochondrionmethylationgene expressionprotein
spellingShingle Yuechang Hong
Minghui Yang
Xin Xu
Peng Wang
Minqiang Fu
Renying Xiong
Jianjiang OuYang
Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
Renal Failure
Hyperuricemia
Mendelian randomization
mitochondrion
methylation
gene expression
protein
title Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
title_full Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
title_fullStr Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
title_full_unstemmed Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
title_short Multi-omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
title_sort multi omics study of mitochondrial dysfunction in the pathogenesis of hyperuricemia
topic Hyperuricemia
Mendelian randomization
mitochondrion
methylation
gene expression
protein
url https://www.tandfonline.com/doi/10.1080/0886022X.2025.2532855
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