title: Differential DNA methylation patterns of polycystic ovarian syndrome in whole blood of Chinese women.
abstract: As a universally common endocrinopathy in women of reproductive age, the polycystic ovarian syndrome is characterized by composite clinical phenotypes reflecting the contributions of reproductive impact of ovarian dysfunction and metabolic abnormalities with widely varying symptoms resulting from interference of the genome with the environment through integrative biological mechanisms including epigenetics. We have performed a genome-wide DNA methylation analysis on polycystic ovarian syndrome and identified a substantial number of genomic sites differentially methylated in the whole blood of PCOS patients and healthy controls (52 sites, false discovery rate < 0.05 and corresponding p value < 5.68e-06), highly consistently replicating biological pathways extensively implicated in immunity and immunity-related inflammatory disorders (false discovery rate < 0.05) that were reportedly regulated in the DNA methylome from ovarian tissue under PCOS condition. Most importantly, our genome-wide profiling focusing on PCOS patients revealed a large number of DNA methylation sites and their enriched functional pathways significantly associated with diverse clinical features (levels of prolactin, estradiol, progesterone and menstrual cycle) that could serve as novel molecular basis of the clinical heterogeneity observed in PCOS women.
authors.affiliation: Unit of Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
authors.forename: Shuxia
authors.initials: S
authors.lastname: Li
authors.affiliation: Center of Reproductive Medicine, Linyi People's Hospital, Linyi, China.|Department of Obstetrics and Gynecology, Shandong Medical College, Linyi, China.
authors.forename: Dongyi
authors.initials: D
authors.lastname: Zhu
authors.affiliation: Department of Medicine, Kolding Hospital, Kolding, Denmark.
authors.forename: Hongmei
authors.initials: H
authors.lastname: Duan
authors.affiliation: Center of Reproductive Medicine, Linyi People's Hospital, Linyi, China.|Department of Obstetrics and Gynecology, Shandong Medical College, Linyi, China.
authors.forename: Anran
authors.initials: A
authors.lastname: Ren
authors.affiliation: Department of Endocrinology, Odense University Hospital, Odense, Denmark.
authors.forename: Dorte
authors.initials: D
authors.lastname: Glintborg
authors.affiliation: Department of Endocrinology, Odense University Hospital, Odense, Denmark.
authors.forename: Marianne
authors.initials: M
authors.lastname: Andersen
authors.affiliation: Department of Hematology, Roskilde Hospital, Roskilde, Denmark.
authors.forename: Vibe
authors.initials: V
authors.lastname: Skov
authors.affiliation: Unit of Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
authors.forename: Mads
authors.initials: M
authors.lastname: Thomassen
authors.affiliation: Unit of Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
authors.forename: Torben
authors.initials: T
authors.lastname: Kruse
authors.affiliation: Unit of Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.|Epidemiology, Biostatistics, and Biodemography, Department of Public Health, University of Southern Denmark, Odense, Denmark.
authors.forename: Qihua
authors.initials: Q
authors.lastname: Tan
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D019175:DNA Methylation / Q000235:genetics*; D005260:Female; D020869:Gene Expression Profiling; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000235:genetics*; D059467:Transcriptome; D055815:Young Adult
keywords: DNA methylation; clinical heterogeneity; genome-wide association study; polycystic ovarian syndrome