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

Frontiers in Endocrinology

Bin Hu¹  Weihui Shi³  Shuyuan Li³  Fei Guo³  Chenming Xu⁵  Mujin Ye⁵ 

[1] IVF Institute, Obstetrics and Gynecology Hospital of Fudan University, Shanghai, China;Institute of Reproduction and Development, Obstetrics and Gynecology Hospital, Fudan University, Shanghai, China;International Peace Maternity and Child Health Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China;;Shanghai Ji Ai Genetics &Shanghai Key Laboratory of Embryo Original Diseases, Shanghai, China;Shanghai WeHealth BioMedical Technology Co., Ltd., Shanghai, China;

关键词: polycystic ovary syndrome;    mitochondrial DNA deletion;    mitochondrial DNA copy number;    mitochondria;    infertility;   

DOI  :  10.3389/fendo.2021.675581

来源: DOAJ

【 摘 要 】

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.

【 授权许可】

Unknown