Zhang Y, Ho K, Keaton JM, Hartzel DN, Day F, Justice AE, Josyula NS, Pendergrass SA, Actkins K, Davis LK, Velez Edwards DR, Holohan B, Ramirez A, Stanaway IB, Crosslin DR, Jarvik GP, Sleiman P, Hakonarson H, Williams MS, Lee MTM. A genome-wide association study of polycystic ovary syndrome identified from electronic health records. American journal of obstetrics and gynecology. 2020 Apr 11. PMID: 32289280 [PubMed]
Polycystic ovary syndrome is the most common endocrine disorder affecting women of reproductive age. A number of criteria have been developed for clinical diagnosis of polycystic ovary syndrome, with the Rotterdam criteria being the most inclusive. Evidence suggests that polycystic ovary syndrome is significantly heritable, and previous studies have identified genetic variants associated with polycystic ovary syndrome diagnosed using different criteria. The widely adopted electronic health record system provides an opportunity to identify patients with polycystic ovary syndrome using the Rotterdam criteria for genetic studies.