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Chapter 2 - Polycystic Ovary Syndrome: From Phenotype to Genotype

Published online by Cambridge University Press:  13 May 2022

By
Joop S. E. Laven  and
Yvonne V. Louwers
Edited by
Gabor T. Kovacs ,
Bart Fauser  and
Richard S. Legro
Gabor T. Kovacs
Affiliation:
Monash University, Melbourne, Australia
Bart Fauser
Affiliation:
University Medical Center, Utrecht, Netherlands
Richard S. Legro
Affiliation:
Penn State Medical Center, Hershey, PA, USA
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Summary

The genetic underpinnings of polycystic ovary syndrome (PCOS) implicate neuroendocrine, metabolic and reproductive pathways in the pathogenesis of disease. Although specific phenotype stratified analyses are needed, genetic findings were surprisingly consistent across the diagnostic classifications using former National Institute of Health (NIH) , Rotterdam or AE-PCOS criteria suggesting a common genetic architecture underlying the different phenotypes. Genes identified until now all in some ways involved ovarian function and folliculogenesis. Indeed most of the identified single nucleotide polymorphisms (SNPs) were significantly associated with ovulatory dysfunction, hyperandrogenism and polycystic ovarian morphology (PCOM). Furthermore, there was also genetic evidence for shared biologic pathways between PCOS and a number of metabolic disorders, menopause, depression and male-pattern balding, a putative male phenotype.

Keywords

polycystic ovary syndrome (PCOS)polycystic ovarian morphology (PCOM)ovulatory dysfunctionhyperandrogenismsingle nucleotide polymorphism (SNP)candidate genesgenome-wide association studies (GWAS)phenome-wide association studies (PheWAS)
Type
Chapter
Information
Polycystic Ovary Syndrome , pp. 8 - 20
Publisher: Cambridge University Press
Print publication year: 2022

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