Genetic and Environmental Factors in the Etiology of Polycystic Ovary Syndrome

Abstract

Abstract Polycystic ovary syndrome (PCOS) is a genetic condition, with phenotypic expression often manifest through exposure to environmental factors. Recent genome-wide association studies from Chinese and European populations have revealed gene variants that may be implicated in the release and action of gonadotrophins. Candidate gene studies also reveal association of PCOS with gene variants implicated in fat mass and the steroid pathway. Much of the heritability of PCOS, however, remains hidden and elusive. Recent data have promoted heritable epigenetic modifications (including the transcriptional effects of micro-RNA and methylation patterns within DNA) as a likely contributor to heritability of PCOS. Although weight gain (primarily through diet) is known to underlie development of PCOS through its effects on insulin resistance, recent data implicate possible environmental roles for gut microbiota, toxins, advanced glycation end products, socioeconomic status, physical activity, and fetal exposure to androgens. A clear understanding of the etiology of PCOS is important to inform development of effective screening tests and novel therapeutic and preventive strategies.