Genetics of Polycystic Ovary Syndrome: What is New?

Corrine K Welt

doi:10.1016/j.ecl.2020.10.006

Genetics of Polycystic Ovary Syndrome: What is New?

Endocrinol Metab Clin North Am. 2021 Mar;50(1):71-82. doi: 10.1016/j.ecl.2020.10.006.

Author

Corrine K Welt¹

Affiliation

¹ Division of Endocrinology, Metabolism and Diabetes, University of Utah School of Medicine, 15 North 2030 East, 2110A, Salt Lake City, UT 84112, USA. Electronic address: cwelt@genetics.utah.edu.

Abstract

Polycystic ovary syndrome (PCOS) is a complex genetic disorder with many genetic loci contributing small risk. Large genome-wide association studies identified 21 genetic risk loci for PCOS in European and Han Chinese women. The genetic architecture is similar across PCOS diagnostic categories. The next wave of analysis will incorporate large genotyped datasets linked to medical records, increasing numbers and ethnic subsets. The resulting genetic risk loci can then be used to create robust genetic risk scores enhanced with clinical information, environment and lifestyle data for a precision medicine approach to PCOS diagnosis and treatment.

Keywords: Genetics; Mendelian randomization; Precision medicine.

Publication types

Research Support, N.I.H., Extramural
Review

MeSH terms

Female
Genetic Predisposition to Disease
Genome-Wide Association Study
Genotype
Humans
Polycystic Ovary Syndrome* / genetics
Polycystic Ovary Syndrome* / therapy
Polymorphism, Single Nucleotide

Grants and funding

R01 HD065029/HD/NICHD NIH HHS/United States