Epigenetic regulation of an adverse metabolic phenotype in polycystic ovary syndrome: the impact of the leukocyte methylation of PPARGC1A promoter

PPARGC1A promoter methylation was specifically increased and aggravated in women with polycystic ovary syndrome with increased metabolic risk, indicating a potential biomarker.

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Volume 107, Issue 2, Pages 467–474


Hongcui Zhao, M.D., Ph.D., Yue Zhao, Ph.D., Yun Ren, M.D., Ph.D., Min Li, M.D., Ph.D., Tianjie Li, M.M., Rong Li, M.D., Ph.D., Yang Yu, Ph.D., Jie Qiao, M.D., Ph.D.



To investigate PPARGC1A promoter methylation and mitochondria DNA (mtDNA) content in the leukocytes of women with polycystic ovary syndrome (PCOS) and analyze the relationship between these indices and metabolic risk for women with PCOS.


Cross-sectional study.


University hospital.


A total of 175 women with PCOS and 127 healthy controls.



Main Outcome Measure(s)

Women with and without PCOS classified using the typical metabolic risk criteria of the National Cholesterol Education Program's Adult Treatment Panel III report (ATPIII), methylation of PPARGC1A promoter tested by methylation-specific polymerase chain reaction, and mtDNA content confirmed by quantitative polymerase chain reaction (PCR).


PPARGC1A promoter methylation was specifically increased, but mtDNA content was specifically decreased in women with PCOS compared with the control women after adjustment for body mass index. Moreover, in women with PCOS who have increased metabolic risk, the differences in PPARGC1A promoter methylation and mitochondrial content were aggravated.


In conclusion, PPARGC1A promoter methylation and mitochondrial content were found to be potential biomarkers for the prediction of metabolic risk in women with PCOS.

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Fertility and Sterility

Editorial Office, American Society for Reproductive Medicine

Fertility and Sterility® is an international journal for obstetricians, gynecologists, reproductive endocrinologists, urologists, basic scientists and others who treat and investigate problems of infertility and human reproductive disorders.