Mitochondrial DNA 4977 bp Deletion in Peripheral Blood is Associated with Polycystic Ovary Syndrome.

Abstract Background PCOS is a common worldwide endocrine disorder. We aimed to examine the associations of two mtDNA biomarkers in the peripheral blood, mtDNA CN and mtDNA4977 DR, with PCOS in a clinical setting.Methods We performed a study involving 263 women with PCOS and 326 age-matched controls between January 2016 and December 2018. The mtDNA CN and mtDNA4977 DR were measured via a multiplex probe-based qPCR. The associations of mtDNA CN and mtDNA DR with the risk of PCOS were estimated by logistic regression.Results In the analysis between mtDNA biomarkers and PCOS, the mtDNA CN (P = 0.003) and mtDNA4977 DR (P < 0.001) levels in PCOS patients were significantly higher than those in the controls. After adjusting for BMI, LH/FSH, and T, 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 mtDNA4977 DR were also supported by the quartile analyses.Conclusions Multivariable models suggest that mtDNA4977 DR levels are strongly associated with PCOS and represent an independent risk factor for PCOS. Future investigation of the utility of mtDNA as a biomarker for PCOS is warranted.