Phenotype and Tissue Expression as a Function of Genetic Risk in Polycystic Ovary Syndrome

• Published in: PloS one Vol. 12; no. 1; p. e0168870
• Main Authors: Pau, Cindy T., Mosbruger, Tim, Saxena, Richa, Welt, Corrine K.
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 09.01.2017; Public Library of Science (PLoS)
• Subjects: Adipose tissue; Bioinformatics; Biology and Life Sciences; Biomarkers; Biopsy; Case-Control Studies; Data processing; Deoxyribonucleic acid; Diabetes; Disease; DNA; Endocrinology; ErbB-2 protein; Female; Follicle Stimulating Hormone - genetics; Follicle Stimulating Hormone - metabolism; Follicle-stimulating hormone; Gene Expression; Gene Expression Regulation; Gene mapping; Gene sequencing; Genes; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Genetics; Genomes; Genotype; Genotypes; Gonadotropins; Humans; Insulin resistance; Interferon regulatory factor 1; Luteinizing Hormone - genetics; Luteinizing Hormone - metabolism; Medicine and Health Sciences; Metabolism; Metformin; Metformin - pharmacology; Metformin - therapeutic use; Morphology; Organ Specificity - genetics; Pathogenesis; Phenotype; Phenotyping; Physiological aspects; Pituitary (anterior); Polycystic ovary syndrome; Polycystic Ovary Syndrome - diagnosis; Polycystic Ovary Syndrome - drug therapy; Polycystic Ovary Syndrome - genetics; Polycystic Ovary Syndrome - metabolism; Quantitative Trait Loci; Ribonucleic acid; Risk; Risk factors; RNA; Signal Transduction; Thada; Womens health; Yang, Cindy; United States

Genome-wide association studies and replication analyses have identified (n = 5) or replicated (n = 10) DNA variants associated with risk for polycystic ovary syndrome (PCOS) in European women. However, the causal gene and underlying mechanism for PCOS risk at these loci have not been determined. We...