Searchable abstracts of presentations at key conferences in endocrinology

ea0050p355 | Reproduction | SFEBES2017

RNA-Sequencing reveals a downregulation of cholesterol metabolism pathways in granulosa cells from women with PCOS

Lerner A , Caraderi T , Drong A , Makrinou E , Christopoulos G , Liyanage M , Lavery S , Hardy K , Lindgren C , Franks S

Polycystic ovary syndrome (PCOS) is a common endocrinopathy that is associated with anovulatory infertility, menstrual disturbances and an adverse metabolic profile. Although the pathophysiology of PCOS remains unclear, dysregulation of gene expression has been previously shown in theca and granulosa cells. In this study, we used RNA-Sequencing to compare the transcriptomes of human granulosa cells from women with and without PCOS. Granulosa cells were retri...

ea0050p355 | Reproduction | SFEBES2017

RNA-Sequencing reveals a downregulation of cholesterol metabolism pathways in granulosa cells from women with PCOS

Lerner A , Caraderi T , Drong A , Makrinou E , Christopoulos G , Liyanage M , Lavery S , Hardy K , Lindgren C , Franks S

Polycystic ovary syndrome (PCOS) is a common endocrinopathy that is associated with anovulatory infertility, menstrual disturbances and an adverse metabolic profile. Although the pathophysiology of PCOS remains unclear, dysregulation of gene expression has been previously shown in theca and granulosa cells. In this study, we used RNA-Sequencing to compare the transcriptomes of human granulosa cells from women with and without PCOS. Granulosa cells were retri...

ea0029s44.1 | Genome wide studies in reproduction | ICEECE2012

Genome-wide association study of endometriosis identifies a locus at 7p15.2 with pleiotropic effects

Zondervan K. , Painter J. , Rahmioglu N. , Nyholt D. , Anderson C. , MacGregor S. , Lee H. , Visscher P. , Kraft P. , Martin N. , Morris A. , Treloar S. , Kennedy S. , Lindgren C. , Missmer S. , Montgomery G.

Endometriosis is a common gynaecological disease associated with severe pelvic pain and sub-fertility. We conducted a genome-wide association (GWA) study in 3,194 surgically confirmed endometriosis cases and 7060 controls of European ancestry from Australia and the UK using 540,000 genetic markers (SNPs). Polygenic predictive modelling showed significantly increased genetic loading among the 1364 (43%) cases with moderate-severe (rAFS III/IV) endometriosis. The strongest assoc...