A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.

doi:10.1210/clinem/dgz326

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Article

A Polygenic and Phenotypic Risk Prediction for Polycystic Ovary Syndrome Evaluated by Phenome-Wide Association Studies.

The Journal of clinical endocrinology and metabolism - 1 Jun 2020

Joo Yoonjung Yoonie, Actkins Ky'Era, Pacheco Jennifer A, Basile Anna O, Carroll Robert, Crosslin David R, Day Felix, Denny Joshua C, Velez Edwards Digna R, Hakonarson Hakon, Harley John B, Hebbring Scott J, Ho Kevin, Jarvik Gail P, Jones Michelle, Karaderi Tugce, Mentch Frank D, Meun Cindy, Namjou Bahram, Pendergrass Sarah, Ritchie Marylyn D, Stanaway Ian B, Urbanek Margrit, Walunas Theresa L, Smith Maureen, Chisholm Rex L, Kho Abel N, Davis Lea, Hayes M Geoffrey

Abstract excerpt

CONTEXT: As many as 75% of patients with polycystic ovary syndrome (PCOS) are estimated to be unidentified in clinical practice. OBJECTIVE: Utilizing polygenic risk prediction, we aim to identify the phenome-wide comorbidity patterns characteristic of PCOS to improve accurate diagnosis and preventive treatment. DESIGN, PATIENTS, AND METHODS: Leveraging the electronic health records (EHRs) of 124 852 individuals,...

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PMID: 31917831
DOI: 10.1210/clinem/dgz326
PMCID: PMC7453038

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Source receipt: pubmed, retrieved 7 Sept 2026.

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