AUTHOR=Ye Mujin , Hu Bin , Shi Weihui , Guo Fei , Xu Chenming , Li Shuyuan 

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

JOURNAL=Frontiers in Endocrinology

VOLUME=12

YEAR=2021

URL=https://www.frontiersin.org/journals/endocrinology/articles/10.3389/fendo.2021.675581

DOI=10.3389/fendo.2021.675581

ISSN=1664-2392

ABSTRACT=<sec><title>Background</title><p>Polycystic 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 mtDNA<sup>4977</sup> deletion rate (DR), with PCOS in a clinical setting.</p></sec><sec><title>Methods</title><p>We performed a study involving 263 women with PCOS and 326 age-matched controls between June 2015 and June 2019. The mtDNA CN and mtDNA<sup>4977</sup> DR were measured using multiplex probe-based qPCR. The associations of the mtDNA CN and mtDNA<sup>4977</sup> DR with the risk of PCOS were estimated using logistic regression.</p></sec><sec><title>Results</title><p>Analysis of the associations between mtDNA biomarkers and PCOS indicate that the mtDNA CN (<italic>P</italic> =  0.003) and mtDNA<sup>4977</sup> DR (<italic>P</italic> &lt; 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 mtDNA<sup>4977</sup> DR was associated with PCOS (odds ratio 1.053, 95% confidence interval 1.024 to 1.083; <italic>P</italic> &lt; 0.001). The linear dose-response trends of the mtDNA<sup>4977</sup> DR were also supported by the quartile analysis.</p></sec><sec><title>Conclusion</title><p>Multivariable models suggest that mtDNA<sup>4977</sup> 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.</p></sec>