Analysis of mitochondrial DNA copy bumber and the risk of female reproductive diseases from the perspective of two-sample Mendelian randomization

HOU Yaqi; GONG Wanli; WANG Yue; YU Qi

doi:10.16462/j.cnki.zhjbkz.2025.04.011

Volume 29 Issue 4

Apr. 2025

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HOU Yaqi, GONG Wanli, WANG Yue, YU Qi. Analysis of mitochondrial DNA copy bumber and the risk of female reproductive diseases from the perspective of two-sample Mendelian randomization[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2025, 29(4): 442-448. doi: 10.16462/j.cnki.zhjbkz.2025.04.011

Citation:

HOU Yaqi, GONG Wanli, WANG Yue, YU Qi. Analysis of mitochondrial DNA copy bumber and the risk of female reproductive diseases from the perspective of two-sample Mendelian randomization[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2025, 29(4): 442-448. doi: 10.16462/j.cnki.zhjbkz.2025.04.011

Citation:

HOU Yaqi, GONG Wanli, WANG Yue, YU Qi. Analysis of mitochondrial DNA copy bumber and the risk of female reproductive diseases from the perspective of two-sample Mendelian randomization[J]. CHINESE JOURNAL OF DISEASE CONTROL & PREVENTION, 2025, 29(4): 442-448. doi: 10.16462/j.cnki.zhjbkz.2025.04.011

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Analysis of mitochondrial DNA copy bumber and the risk of female reproductive diseases from the perspective of two-sample Mendelian randomization

doi: 10.16462/j.cnki.zhjbkz.2025.04.011

HOU Yaqi^{1, 2},
GONG Wanli^{1, 2},
WANG Yue^{1, 2},
YU Qi^{1, 2
,
,}

1.
School of Management, Shanxi Medical University, Jinzhong 030600, China
2.
Shanxi Key Laboratory of Big Data for Clinical Decision Research, Taiyuan 030001, China

Funds:

Shanxi Basic Research Program (Free Exploration category) 202303021221132

Shanxi Science and Technology Innovation Talent Team 202304051001017

More Information

Corresponding author: YU Qi, E-mail: yuqi@sxmu.edu.cn
Received Date: 2024-07-26
Rev Recd Date: 2025-01-27
Publish Date: 2025-04-10

Abstract

Abstract

Objective The study aims to investigate the causal relationship between mitochondrial DNA copy number (mtDNAcn) and various female reproductive system diseases, including cervical cancer, ovarian cancer, endometrial cancer, cervical polyps, polycystic ovary syndrome (PCOS), ovarian cysts, premature ovarian failure (POF), endometriosis, and uterine fibroids. Methods ln this study, female reproductive system diseases published in the Open GWAS database from 2015 to 2023 and FinnGen database from 2023 were selected as outcomes. A two-sample Mendelian randomization study was conducted by inverse variance weighted (IVW) method, and supplemented by weighted median analysis and MR-Egger regression analysis. Tests for horizontal pleiotropy and heterogeneity were conducted to ensure the stability of the results, and reverse analysis was also performed. Results Genetically predicted mtDNAcn was not associated with the risk of cervical cancer (OR=1.001, 95% CI: 0.999-1.004), ovarian cancer (OR=0.989, 95% CI: 0.702-1.394), endometrial cancer (OR=0.894, 95% CI: 0.610-1.309), cervical polyps (OR=0.999, 95% CI: 0.996-1.001), PCOS(OR=0.735, 95% CI: 0.497-1.085), ovarian cysts (OR=1.103, 95% CI: 0.917-1.327), POF (OR=1.061, 95% CI: 0.461-2.443), endometriosis (OR=1.165, 95% CI: 0.951-1.425), or uterine fibroids (OR=1.001, 95% CI: 0.997-1.006) (all P>0.05). Reverse analysis revealed an association between ovarian cysts and increased mtDNAcn levels (P=0.002), with no evidence of heterogeneity or pleiotropy. Conclusions Ovarian cysts are associated with an increase in mtDNAcn. The results suggest that mtDNAcn may serve as a potential biomarker for ovarian cysts, providing new insights and methods for early diagnosis and monitoring of the disease.
- Mitochondrial DNA copy number,
- Diseases of the female reproductive system,
- Mendelian randomization

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References(28)

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