Genetic Studies on Polycystic Ovary Syndrome

Han Zhao; Yue Lv; Lei Li; Zi-Jiang Chen

doi:10.1016/j.bpobgyn.2016.04.002

Genetic Studies on Polycystic Ovary Syndrome

Best Pract Res Clin Obstet Gynaecol. 2016 Nov:37:56-65. doi: 10.1016/j.bpobgyn.2016.04.002. Epub 2016 May 19.

Authors

Han Zhao¹, Yue Lv¹, Lei Li¹, Zi-Jiang Chen²

Affiliations

¹ Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China.
² Center for Reproductive Medicine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China; National Research Center for Assisted Reproductive Technology and Reproductive Genetics, Jinan, China; The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Jinan, China; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China. Electronic address: [email protected].

PMID: 27264388
DOI: 10.1016/j.bpobgyn.2016.04.002

Abstract

Polycystic ovary syndrome (PCOS) is a highly heterogeneous reproductive system disorder of which the aetiology is not fully understood. Previous association studies have been conducted on >100 candidate genes, which principally related to reproductive hormones, cellular metabolism and chronic inflammation. Heritable tendencies have long been recognized for pathogeneses of PCOS, and recently a genome-wide association study (GWAS) in PCOS provides new clues to understand the genetic components and pathways in PCOS physiology. However, the current knowledge of the pathogenesis of PCOS is still in its infancy. Further studies using new technologies such as next-generation sequencing (NGS) shall be useful to understand more causal variants for PCOS.

Keywords: genetic association study; genome-wide association study; polycystic ovary syndrome.

Publication types

Review

MeSH terms

Alpha-Ketoglutarate-Dependent Dioxygenase FTO / genetics
Antigens, CD / genetics
Asian People / genetics
Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Inflammation / genetics
Insulin / genetics
Insulin Receptor Substrate Proteins / genetics
Interleukin-6 / genetics
Polycystic Ovary Syndrome / genetics*
Receptor, Insulin / genetics
Receptors, Androgen / genetics
Sex Hormone-Binding Globulin / genetics
Steroid 17-alpha-Hydroxylase / genetics
Tumor Necrosis Factor-alpha / genetics
White People / genetics

Substances

Antigens, CD
IL6 protein, human
Insulin
Insulin Receptor Substrate Proteins
Interleukin-6
Receptors, Androgen
Sex Hormone-Binding Globulin
TNF protein, human
Tumor Necrosis Factor-alpha
Alpha-Ketoglutarate-Dependent Dioxygenase FTO
FTO protein, human
CYP17A1 protein, human
Steroid 17-alpha-Hydroxylase
INSR protein, human
Receptor, Insulin