The role of mitochondrial DNA copy number in female infertility: a bidirectional two-sample Mendelian randomization study.

Autor:	Wan X; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Lai X; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Huang M; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Yu M; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Ding T; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Huang Z; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Zhang Z; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Wu X; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China., Tan J; Reproductive Medicine Center, Jiangxi Provincial Maternal and Child Health Hospital, Nanchang, China.
Jazyk:	angličtina
Zdroj:	Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2024 Dec; Vol. 40 (1), pp. 2444380. Date of Electronic Publication: 2024 Dec 23.
DOI:	10.1080/09513590.2024.2444380
Abstrakt:	Background: Previous studies on the impact of mitochondrial DNA (mtDNA) copy number on female infertility were limited and inconsistent. Methods: The causal relationship between mtDNA copy number and female infertility was evaluated using a bidirectional 2-sample Mendelian randomization (MR) method. Inverse variance weighted (IVW) method was applied for principal analysis, and MR-Egger, weighted median, simple mode, weighted mode method for secondary analyses. Sensitivity analysis was conducted using MR-PRESSO, MR-Egger, Cochran's Q, and leave-one-out tests. Two large-scale GWAS mtDNA copy number datasets were employed for testing and validation to ensure reliable results. Results: According to the forward MR analysis, genetically predicted mtDNA copy number was not associated with premature ovarian failure (POF) (OR = 1.969, 95% CI 0.571-6.789; p  = .283), polycystic ovary syndrome (PCOS) (OR = 0.821, 95% CI 0.314-2.142; p  = .686), endometriosis (OR = 1.281, 95% CI 0.962-1.704; p  = 0.090), or female infertility (OR = 0.966; 95% CI 0.744-1.253; p  = .794) but was associated with intestinal endometriosis (OR = 7.528; 95% CI 1.654-34.262; p  = .009) and adenomyosis (OR = 1.710; 95% CI 1.118-2.616; p  = .013). Reverse MR studies did not reveal a correlation between female infertility and mtDNA copy number. Similar results were observed in the validation data. Conclusions: Our study suggested that there is no causal relationship between mtDNA copy number and female infertility, but there is a causal relationship between mtDNA copy number and intestinal endometriosis and adenomyosis. The genetic evidence provided by this study provides a new perspective for studying the impact of mtDNA copy number on female infertility.
Databáze:	MEDLINE
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