Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome

BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder worldwide. We aimed to examine the associations of two mitochondrial DNA (mtDNA) biomarkers in the peripheral blood, mtDNA copy number (CN), and mtDNA4977 deletion rate (DR), with PCOS in a clinical setting.MethodsWe performed...

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Main Authors: Mujin Ye, Bin Hu, Weihui Shi, Fei Guo, Chenming Xu, Shuyuan Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.675581/full
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author Mujin Ye
Mujin Ye
Bin Hu
Bin Hu
Weihui Shi
Weihui Shi
Fei Guo
Fei Guo
Chenming Xu
Chenming Xu
Chenming Xu
Shuyuan Li
Shuyuan Li
author_facet Mujin Ye
Mujin Ye
Bin Hu
Bin Hu
Weihui Shi
Weihui Shi
Fei Guo
Fei Guo
Chenming Xu
Chenming Xu
Chenming Xu
Shuyuan Li
Shuyuan Li
author_sort Mujin Ye
collection DOAJ
description BackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder worldwide. We aimed to examine the associations of two mitochondrial DNA (mtDNA) biomarkers in the peripheral blood, mtDNA copy number (CN), and mtDNA4977 deletion rate (DR), with PCOS in a clinical setting.MethodsWe performed a study involving 263 women with PCOS and 326 age-matched controls between June 2015 and June 2019. The mtDNA CN and mtDNA4977 DR were measured using multiplex probe-based qPCR. The associations of the mtDNA CN and mtDNA4977 DR with the risk of PCOS were estimated using logistic regression.ResultsAnalysis of the associations between mtDNA biomarkers and PCOS indicate that the mtDNA CN (P = 0.003) and mtDNA4977 DR (P < 0.001) in PCOS patients were significantly higher than those in the controls. After adjusting for the body mass index, luteinizing hormone/follicle-stimulating hormone ratio, and testosterone level, only higher mtDNA4977 DR was associated with PCOS (odds ratio 1.053, 95% confidence interval 1.024 to 1.083; P < 0.001). The linear dose-response trends of the mtDNA4977 DR were also supported by the quartile analysis.ConclusionMultivariable models suggest that mtDNA4977 DR levels are strongly associated with PCOS and represent an independent risk factor for PCOS. Further investigation of the utility of mtDNA as a biomarker for PCOS is warranted.
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spelling doaj.art-d120720c736e4dec881a22c2e56f5df42022-12-21T17:59:56ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922021-07-011210.3389/fendo.2021.675581675581Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary SyndromeMujin Ye0Mujin Ye1Bin Hu2Bin Hu3Weihui Shi4Weihui Shi5Fei Guo6Fei Guo7Chenming Xu8Chenming Xu9Chenming Xu10Shuyuan Li11Shuyuan Li12International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Key Laboratory of Embryo Original Diseases, Shanghai, ChinaShanghai Ji Ai Genetics & IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, ChinaShanghai WeHealth BioMedical Technology Co., Ltd., Shanghai, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Key Laboratory of Embryo Original Diseases, Shanghai, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Key Laboratory of Embryo Original Diseases, Shanghai, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Key Laboratory of Embryo Original Diseases, Shanghai, ChinaInstitute of Reproduction and Development, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, ChinaInternational Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, ChinaShanghai Key Laboratory of Embryo Original Diseases, Shanghai, ChinaBackgroundPolycystic ovary syndrome (PCOS) is a common endocrine disorder worldwide. We aimed to examine the associations of two mitochondrial DNA (mtDNA) biomarkers in the peripheral blood, mtDNA copy number (CN), and mtDNA4977 deletion rate (DR), with PCOS in a clinical setting.MethodsWe performed a study involving 263 women with PCOS and 326 age-matched controls between June 2015 and June 2019. The mtDNA CN and mtDNA4977 DR were measured using multiplex probe-based qPCR. The associations of the mtDNA CN and mtDNA4977 DR with the risk of PCOS were estimated using logistic regression.ResultsAnalysis of the associations between mtDNA biomarkers and PCOS indicate that the mtDNA CN (P = 0.003) and mtDNA4977 DR (P < 0.001) in PCOS patients were significantly higher than those in the controls. After adjusting for the body mass index, luteinizing hormone/follicle-stimulating hormone ratio, and testosterone level, only higher mtDNA4977 DR was associated with PCOS (odds ratio 1.053, 95% confidence interval 1.024 to 1.083; P < 0.001). The linear dose-response trends of the mtDNA4977 DR were also supported by the quartile analysis.ConclusionMultivariable models suggest that mtDNA4977 DR levels are strongly associated with PCOS and represent an independent risk factor for PCOS. Further investigation of the utility of mtDNA as a biomarker for PCOS is warranted.https://www.frontiersin.org/articles/10.3389/fendo.2021.675581/fullpolycystic ovary syndromemitochondrial DNA deletionmitochondrial DNA copy numbermitochondriainfertility
spellingShingle Mujin Ye
Mujin Ye
Bin Hu
Bin Hu
Weihui Shi
Weihui Shi
Fei Guo
Fei Guo
Chenming Xu
Chenming Xu
Chenming Xu
Shuyuan Li
Shuyuan Li
Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
Frontiers in Endocrinology
polycystic ovary syndrome
mitochondrial DNA deletion
mitochondrial DNA copy number
mitochondria
infertility
title Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
title_full Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
title_fullStr Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
title_full_unstemmed Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
title_short Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome
title_sort mitochondrial dna 4977 bp deletion in peripheral blood is associated with polycystic ovary syndrome
topic polycystic ovary syndrome
mitochondrial DNA deletion
mitochondrial DNA copy number
mitochondria
infertility
url https://www.frontiersin.org/articles/10.3389/fendo.2021.675581/full
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