Research on the genetic etiology of polycystic ovary syndrome in the post-GWAS era

Author:

Zhao Shigang123,Zhao Han123,Chen Zi-Jiang12345

Affiliation:

1. State Key Laboratory of Reproductive Medicine and Offspring Health, Center for Reproductive Medicine, Institute of Women, Children and Reproductive Health, Shandong University, Jinan, Shandong, China

2. National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Shandong University, Jinan, Shandong, China

3. Key Laboratory of Reproductive Endocrinology (Shandong University), Ministry of Education, Jinan, Shandong, China

4. Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China

5. Department of Reproductive Medicine, Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Abstract

Great progress has been made in the genetic research of PCOS, thanks to the application of genome association study (GWAS) technology. However, in the post-GWAS era, investigating the pathogenic mechanisms related to numerous genetic loci has become challenging, leading to the current generalized approach to treating PCOS. To address this issue, taking the significantly associated susceptibility gene THADA as an example, we share a series of advancements from the perspectives of genetic evolution, epigenetics, and gene function studies. Our aim is to provide guidance for a better understanding of the essence of PCOS.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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