| Title: | The mitochondrial DNA copy number and ovary-related reproductive disorders: A bidirectional two-sample Mendelian randomization study |
| Journal: | International Journal of Gynecology & Obstetrics |
| Published: | 30 Nov 2024 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/39614691/ |
| DOI: | https://doi.org/10.1002/ijgo.16057 |
| URL: | https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijgo.16057 |
Publication 13942
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Abstract
OBJECTIVE: In the present study, a bidirectional two-sample Mendelian randomization approach was utilized to explore potential causal relationships between mitochondrial DNA copy number (mtDNA-CN) and ovary-related reproductive disorders (ORRDs), including ovarian dysfunction, ovarian cyst, polycystic ovary syndrome (PCOS), premature ovarian failure (POF) and ovarian endometriosis.</p>
METHODS: Genetic associations with mtDNA-CN were obtained from three genome-wide association study (GWAS) summary statistics from the UK Biobank, and ORRD data were investigated using summary statistics from the FinnGen cohort. Single nucleotide polymorphisms (SNPs) correlated with mtDNA-CN were selected as genetic instrumental variables (IVs) to estimate the causal effect of mtDNA-CN on ORRDs using the inverse-variance weighted (IVW) method with heterogeneity and pleiotropy analysis, and we repeated this in the opposite direction using instruments for ORRDs.</p>
RESULTS: We found that the genetically predicted mtDNA was indicative of increased levels of PCOS (OR = 1.16; P < 0.001) and ovarian endometriosis (OR = 1.25; P = 0.007) in the IVW analysis and was not associated with the risk of other ORRDs. In the reverse direction, genetically predicted ORRDs were not associated with mtDNA-CN levels in the IVW analysis. Sensitivity and replication analyses showed the results to be stable.</p>
CONCLUSION: We found that mtDNA-CN may increase the risk of PCOS and ovarian endometriosis. This may have implications for mtDNA-CN as a biomarker for these conditions in clinical practice.</p>
5 Authors
- Ke Peng
- Xiao Han
- Congquan Wu
- Qiaowen Lu
- Shujun Gao
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