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已发表论文
肥厚性瘢痕中线粒体基因的多组学关联分析：孟德尔随机化的应用
Authors Gong T, Wu M, Zheng J, Chen Z
Received 15 October 2025
Accepted for publication 26 November 2025
Published 2 December 2025 Volume 2025:18 Pages 16825—16842
DOI https://doi.org/10.2147/JIR.S567534
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Dr Anish R. Maskey
Teng Gong,1,* Minjuan Wu,2,* Jiansheng Zheng,3,* Zhaohong Chen1
1Burn & Wound Repair Department, Fujian Burn Institute, Fujian Burn Medical Center, Fujian Provincial Key Laboratory of Burn and Trauma, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China; 2Department of Histology and Embryology, Naval Medical University, Shanghai, 200082, People’s Republic of China; 3Department of Burns and Plastic Surgery, The 909th Hospital, School of Medicine, Xiamen University, Zhangzhou, Fujian, 363000, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Zhaohong Chen, Burn & Wound Repair Department, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China, Email doctorczh@163.com Teng Gong, Burn & Wound Repair Department, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China, Email gtcash@fjmu.edu.cn
Purpose: The role of mitochondrial-related genes in the pathophysiology of hypertrophic scars (HS) is not well understood. This study aims to provide multi-omics insight into mitochondrial genes associated with HS through Mendelian randomization (MR) methods.
Methods: Mitochondrial-related genes in this study were obtained from the MitoCarta3.0 database. Relevant single nucleotide polymorphisms (SNPs) were screened from methylation, expression and protein quantitative trait loci (mQTLs, eQTLs, and pQTLs) of mitochondrial genes. Five regression models including MR-Egger regression, Inverse variance weighted (IVW), Weighted Median, Weighted mode and Simple mode were employed to assess the potential causal relationship between mitochondrial genes and HS risk. Steiger filtering test was used to verify the direction of the causal relationship between genotype, intermediate variables, and final outcomes. Colocalization was employed to identify whether two phenotypes were driven by the same causal variant in a specific region. Multi-omics analysis integrated results from three different gene regulatory layers.
Results: 376 CpG sites, 233 mitochondrial gene expressions and 34 proteins were found associated with HS via MR. Multi-omics results indicated that HTATIP2 and PDK1 were genes with tier 1 multi-omics evidence, along with 16 tier 2 genes and 3 tier 3 genes.
Conclusion: This study identified 21 mitochondrial genes with therapeutic potential, with HTATIP2 and PDK1 being the most promising genes for clinical application, which may strengthen the understanding of HS pathophysiology.
Keywords: multi-omics, Mendelian randomization, mitochondrial genes, hypertrophic scar
1Burn & Wound Repair Department, Fujian Burn Institute, Fujian Burn Medical Center, Fujian Provincial Key Laboratory of Burn and Trauma, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China; 2Department of Histology and Embryology, Naval Medical University, Shanghai, 200082, People’s Republic of China; 3Department of Burns and Plastic Surgery, The 909th Hospital, School of Medicine, Xiamen University, Zhangzhou, Fujian, 363000, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Zhaohong Chen, Burn & Wound Repair Department, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China, Email doctorczh@163.com Teng Gong, Burn & Wound Repair Department, Fujian Medical University Union Hospital, Fuzhou, Fujian, 350001, People’s Republic of China, Email gtcash@fjmu.edu.cn
Purpose: The role of mitochondrial-related genes in the pathophysiology of hypertrophic scars (HS) is not well understood. This study aims to provide multi-omics insight into mitochondrial genes associated with HS through Mendelian randomization (MR) methods.
Methods: Mitochondrial-related genes in this study were obtained from the MitoCarta3.0 database. Relevant single nucleotide polymorphisms (SNPs) were screened from methylation, expression and protein quantitative trait loci (mQTLs, eQTLs, and pQTLs) of mitochondrial genes. Five regression models including MR-Egger regression, Inverse variance weighted (IVW), Weighted Median, Weighted mode and Simple mode were employed to assess the potential causal relationship between mitochondrial genes and HS risk. Steiger filtering test was used to verify the direction of the causal relationship between genotype, intermediate variables, and final outcomes. Colocalization was employed to identify whether two phenotypes were driven by the same causal variant in a specific region. Multi-omics analysis integrated results from three different gene regulatory layers.
Results: 376 CpG sites, 233 mitochondrial gene expressions and 34 proteins were found associated with HS via MR. Multi-omics results indicated that HTATIP2 and PDK1 were genes with tier 1 multi-omics evidence, along with 16 tier 2 genes and 3 tier 3 genes.
Conclusion: This study identified 21 mitochondrial genes with therapeutic potential, with HTATIP2 and PDK1 being the most promising genes for clinical application, which may strengthen the understanding of HS pathophysiology.
Keywords: multi-omics, Mendelian randomization, mitochondrial genes, hypertrophic scar