OR15-2 A Novel Upstream Enhancer Acts Synergistically with GnRH and Activin to Increase FSHβ Transcription

ABSTRACT: Abstract Polycystic ovary syndrome (PCOS) is the most common cause of female infertility and is associated with an increased risk of type 2 diabetes and cardiovascular disease. Understanding the etiology of PCOS is crucial to relieve this tremendous health burden. Twin studies estimate that 70% of PCOS etiology can be explained by genetic factors, motivating studies to identify these factors. Recent genome wide association studies identified a PCOS risk locus that encompasses the gene encoding the follicle-stimulating hormone beta (FSHβ) subunit. The most significant single nucleotide polymorphism (SNP) within this locus, rs11031006 (rs06), resides within a region of DNA (~450 base pairs) that is highly conserved among mammals. As FSH supplementation can restore ovulation in some PCOS pati

SUBMITTER: Bohaczuk S 

PROVIDER: S-EPMC6555018 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature