Title:Molecular Genetics of Polycystic Ovary Syndrome: An Update
VOLUME: 15 ISSUE: 4
Author(s):L. Li and K.-H. Baek
Affiliation:Department of Biomedical Science, CHA University, Bundang CHA General Hospital, Bundang-Gu, Seongnam-Si, Gyeonggi-Do 463-400, Republic of Korea.
Keywords:Genome-wide association study, inflammation, infertility, insulin signaling, metabolism, polycystic ovary
syndrome.
Abstract:Polycystic ovary syndrome (PCOS) is a complex genetic disorder caused by
interplay between several ‘susceptibility’ genes and environment factors. In the past few
years, numerous studies of genomics and transcriptomics attempted to discover genes
affecting PCOS. Pre-genome wide association study (GWAS) plays a stepping stone effect
on the progress of PCOS, even though most of the strongest associations are for loci rather
than functional variants. A trend towards large-scale GWAS has succeeded in identifying
many additional novel PCOS loci. Most of the PCOS-associated regions are shared with
other diseases or symptoms, as well as with metabolism, inflammation or insulin signaling-related traits, or
cancer. Moreover, susceptibility genes for early diagnosis of PCOS are expected to offer the prevention of
long-term risk of obesity, cardiovascular disease, and type 2 diabetes (T2DM) as well. Furthermore,
considerable advanced new technical approaches such as GWAS and next-generation sequencing will provide
new opportunities in the molecular analysis of PCOS, which can, in the long term, lead to new therapeutic
treatments for the disorder. The present review discusses heterogeneous clinical manifestations of PCOS,
controversies surrounding the diagnosis of PCOS, and the recent findings of pre-GWAS and GWAS studies on
PCOS, highlighting the relevant candidate gene families and their potential functional pathways relevant for
PCOS.
