The role of mitochondrial DNA copy number in cardiometabolic disease: a bidirectional two-sample mendelian randomization study

P Qin, T Qin, L Liang, X Li, B Jiang, X Wang… - Cardiovascular …, 2024 - Springer
Background This study used a bidirectional 2-sample Mendelian randomization study to
investigate the potential causal links between mtDNA copy number and cardiometabolic …

GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia

M Chong, P Mohammadi-Shemirani, N Perrot… - Elife, 2022 - elifesciences.org
GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights
a potential causal role in dementia | eLife Skip to Content eLife logo eLife home page Menu …

Mitochondrial DNA copy number is associated with Crohn's disease: a comprehensive Mendelian randomization analysis

X Cai, X Li, C Liang, M Zhang, Y Xu, Z Dong, Y Weng… - Scientific reports, 2023 - nature.com
Mitochondrial DNA plays a critical role in the pathophysiological process of inflammation.
However, the relationship between mitochondrial DNA copy number (mtDNA-CN) and …

Stroke Genetics, Genomics, and Precision Medicine

S Debette, G Paré - Stroke, 2024 - ahajournals.org
Increasingly large cross-ancestry GWAS meta-analyses have discovered over 100
independent genetic risk loci harboring common single nucleotide variants associated with …

Nuclear genetic control of mtDNA copy number and heteroplasmy in humans

R Gupta, M Kanai, TJ Durham, K Tsuo, JG McCoy… - Nature, 2023 - nature.com
Mitochondrial DNA (mtDNA) is a maternally inherited, high-copy-number genome required
for oxidative phosphorylation. Heteroplasmy refers to the presence of a mixture of mtDNA …

Leukocyte mitochondrial DNA copy number is a potential non-invasive biomarker for psoriasis

MS Alwehaidah, S AlFadhli, G Al-Kafaji - PloS one, 2022 - journals.plos.org
Abnormalities in the mitochondria have been linked to psoriasis, a chronic immune-
mediated inflammatory skin disease. The mitochondrial DNA (mtDNA) is present in …

[HTML][HTML] Causal Relationship between Mitochondrial Biological Function and Periodontitis: Evidence from a Mendelian Randomization Study

H Zhou, YX Qi, RY Cao, XX Zhang, A Li… - International Journal of …, 2024 - mdpi.com
A growing number of studies indicate that mitochondrial dysfunction serves as a
pathological mechanism for periodontitis. Therefore, this two-sample Mendelian …

Mitochondrial DNA Copy Number as a Potential Biomarker for the Severity of Motor Symptoms and Prognosis in Parkinson's Disease

S Jo, JH Oh, EJ Lee, M Choi, J Lee, S Lee… - Movement …, 2025 - Wiley Online Library
Abstract Background Mitochondrial function influences Parkinson's disease (PD) through the
accumulation of pathogenic alpha‐synuclein, oxidative stress, impaired autophagy, and …

[HTML][HTML] The association between mitochondrial DNA abundance and stroke: a combination of multivariable-adjusted survival and Mendelian randomization analyses

LG Martens, J Luo, MJH Wermer, KW van Dijk, S Hägg… - Atherosclerosis, 2022 - Elsevier
Background and aims Mitochondrial dysfunction is associated with increased reactive
oxygen species (ROS) that are thought to drive disease risk, including stroke. We …

[HTML][HTML] Mitochondrial DNA abundance and circulating metabolomic profiling: Multivariable-adjusted and Mendelian randomization analyses in UK Biobank

J Luo, S le Cessie, KW van Dijk, S Hägg, F Grassmann… - Mitochondrion, 2025 - Elsevier
Background Low leukocyte mitochondrial DNA (mtDNA) abundance has been associated
with a higher risk of atherosclerotic cardiovascular disease, but through unclear …