title: Genetic determinants of polycystic ovary syndrome: progress and future directions.
abstract: The field of the genetics of polycystic ovary syndrome (PCOS) has relatively recently moved into the era of genome-wide association studies. This has led to the discovery of 16 robust loci for PCOS. Some loci contain genes with clear roles in reproductive (LHCGR, FSHR, and FSHB) and metabolic (INSR and HMGA2) dysfunction in the syndrome. The next challenge facing the field is the identification of causal variants and genes and the role they play in PCOS pathophysiology. The potential for gene discovery to improve diagnosis and treatment of PCOS is promising, though there is much to be done in the field before the current findings can be translated to the clinic.
authors.affiliation: Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California; Bioinformatics and Computational Biology Research Center, Department of Biomedical Sciences, Cedars-Sinai Medical Center, Los Angeles, California. Electronic address: michelle.jones@csmc.edu.
authors.forename: Michelle R
authors.initials: MR
authors.lastname: Jones
authors.affiliation: Division of Endocrinology, Diabetes, and Metabolism, Department of Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
authors.forename: Mark O
authors.initials: MO
authors.lastname: Goodarzi
mesh_terms: D005260:Female; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D055106:Genome-Wide Association Study; D040941:Heredity; D006801:Humans; D010641:Phenotype; D011085:Polycystic Ovary Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D012098:Reproduction / Q000235:genetics*; D060728:Reproductive Health; D012307:Risk Factors
chemical_list: D005819:Genetic Markers
keywords: GWAS; PCOS; SNP; association study; linkage