ArticleBMC genomics2024
Genetic variants affecting mitochondrial function provide further insights for kidney disease.
Article in BMC genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- The Dual Role of Zinc Homeostasis in Gram-Negative Bacterial Pathogenicity and Host Immune Defense.Microorganisms · 2026Review
- Response to the Letter to the Editor Entitled "A Missing Genomic Dimension: The Small but Central Mitochondrial Genome in Diabetic Kidney Disease Genetics".Kidney international reports · 2026Article
- An improved analytic workflow for serum mtDNA DAMP abundance, fragmentation and heteroplasmic variants: a retrospective analysis of acute respiratory failure patients.Scientific reports · 2026Article
- New Insights into the Role of Mitochondrial Dysfunction in Diabetic Kidney Disease in the Omics Era.Diabetes, metabolic syndrome and obesity : targets and therapy · 2026Review
- A causal association between serum mitochondrial-related proteins and the risk of chronic kidney disease.International urology and nephrology · 2025Article
- Mitochondrial variation in Taiwan Biobank reveals ancestry structure and trait associations.iScience · 2025Article
- Serum mtDNA DAMP abundance, fragmentation and heteroplasmic variants associate with Acute Respiratory Failure outcome: A secondary analysis of study NCT00976833.medRxiv : the preprint server for health sciences · 2025Article
- Extracellular Vesicle Mitochondrial DNA Levels Are Associated With Chronic Kidney Disease and Mitochondrial Haplogroup in Obese Individuals.Journal of extracellular biology · 2025Article
- Bioinformatics analysis of comorbid mechanisms between ischemic stroke and end stage renal disease.Scientific reports · 2025Article
- Control of Mitochondrial Quality: A Promising Target for Diabetic Kidney Disease Treatment.Kidney international reports · 2025Review
- Mitochondrial related variants associated with cardiovascular traits.Frontiers in physiology · 2024Article
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12 authors.
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Abstract
backgroundChronic kidney disease (CKD) is a complex disorder that has become a high prevalence global health problem, with diabetes being its predominant pathophysiologic driver. Autosomal genetic variation only explains some of the predisposition to kidney disease. Variations in the mitochondrial genome (mtDNA) and nuclear-encoded mitochondrial genes (NEMG) are implicated in susceptibility to kidney disease and CKD progression, but they have not been thoroughly explored. Our aim was to investigate the association of variation in both mtDNA and NEMG with CKD (and related traits), with a particular focus on diabetes.
methodsWe used the UK Biobank (UKB) and UK-ROI, an independent collection of individuals with type 1 diabetes mellitus (T1DM) patients.
resultsFourteen mitochondrial variants were associated with estimated glomerular filtration rate (eGFR) in UKB. Mitochondrial variants and haplogroups U, H and J were associated with eGFR and serum variables. Mitochondrial haplogroup H was associated with all the serum variables regardless of the presence of diabetes. Mitochondrial haplogroup X was associated with end-stage kidney disease (ESKD) in UKB. We confirmed the influence of several known NEMG on kidney disease and function and found novel associations for SLC39A13, CFL1, ACP2 or ATP5G1 with serum variables and kidney damage, and for SLC4A1, NUP210 and MYH14 with ESKD. The G allele of TBC1D32-rs113987180 was associated with higher risk of ESKD in patients with diabetes (OR:9.879; CI
conclusionsWe identified novel variants both in mtDNA and NEMG which may explain some of the missing heritability for CKD and kidney phenotypes. We confirmed the role of MT-ND5 and mitochondrial haplogroup H on renal disease (serum variables), and identified the MT-ND5-rs41535848G variant, along with mitochondrial haplogroup X, associated with higher risk of ESKD. Despite most of the associations were independent of diabetes, we also showed potential roles for NEMG in T1DM.
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