The role of mitochondrial DNA copy number in cardiometabolic disease: a bidirectional two-sample mendelian randomization study
Authors' conclusion
Findings of this Mendelian randomization study did not support a causal effect of mtDNA copy number in the development of cardiometabolic disease, but found dyslipidemia and CAD can lead to reduced mtDNA copy number. These findings have implications for mtDNA copy number as a biomarker of dyslipidemia and CAD in clinical practice.
Study context
- Population
- Genome-wide association study (GWAS) summary statistics: mtDNA copy number from UK biobank; cardiometabolic disease (obesity, hypertension, hyperlipidaemia, T2D, CAD, stroke, ischemic stroke, HF) from largest available GWASUK biobank GWAS
- Participants
- 395,718 participants
- Comparison
- Genetically predicted mtDNA copy number and cardiometabolic disease, both directions
- Outcome
- Genetically predicted mtDNA copy number and cardiometabolic disease risk
Methodological detailsInverse variance weighting (IVW) primary analysis, weighted median, MR-Egger and MR-PRESSO sensitivity analyses
- IVW primary analysis
- Weighted median, MR-Egger and MR-PRESSO sensitivity analyses
Main finding
As reported in the abstract
- Obesity, not associated
- P = 0.148
- Hypertension, not associated
- P = 0.515
- Dyslipidemia, not associated
- P = 0.684
- T2D, not associated
- P = 0.631
- CAD, not associated
- P = 0.199
- Stroke, not associated
- P = 0.314
- Ischemic stroke, not associated
- P = 0.633
- HF, not associated
- P = 0.708
Further findings
| Outcome | β (95% CI) | P value |
|---|---|---|
| Reverse direction: genetically predicted dyslipidemia and mtDNA copy number (IVW)Decreased mtDNA copy number | - 0.060 (- 0.044 to - 0.076) | P = 2.416e-14 |
| Reverse direction: CAD and mtDNA copy numberSuggestive evidence | - 0.021 (- 0.003 to - 0.039) | P = 0.025 |
Sensitivity and replication analyses
- Sensitivity and replication analyses showed stable findings
Original publication
The role of mitochondrial DNA copy number in cardiometabolic disease: a bidirectional two-sample mendelian randomization study. Cardiovasc Diabetol. Published 28 January 2024. doi:10.
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