Poster Presentation ESA-SRB-APEG-NZSE 2022

Expression of PCOS candidate genes in human gonadal, metabolic, and brain tissues in fetuses and adults. (#370)

Rafiatu Azumah 1 , Katja Hummitzsch 1 , Richard A Anderson 2 , Raymond J Rodgers 1
  1. Discipline of Obstetrics and Gynaecology, School of Medicine, Robinson Research Institute, The University of Adelaide, Adelaide, SA, 5005, , Australia
  2. MRC Centre for Reproductive Health, Queen's Medical Research Institute, University of Edinburgh, , Edinburgh, UK

Polycystic Ovary Syndrome (PCOS) is a heterogeneous disorder, affecting 10% of women of reproductive age, with infertility, obesity and type 2 diabetes as risk factors. The cause of PCOS is not known but there is predisposition to PCOS in adult life that begins during fetal or perinatal life. PCOS also has a genetic predisposition and a number of loci associated with PCOS have been identified. They contain 25 candidate genes. Although the name PCOS suggests a syndrome of the ovary, PCOS has also been associated with the central nervous system and other organ systems in the body due to the symptoms it present. Here, we examined the expression patterns of PCOS candidate genes in gonadal (ovary and testis), metabolic (heart, liver and kidney) and brain (brain and cerebellum) tissues during the first half of human fetal development and postnatally till adulthood using publicly available RNA sequence data. We found that the genes were dynamically expressed across all tissues studied. Some genes were significantly expressed in gonadal tissues, whilst others in the metabolic or brain tissues at different time points prenatally and/or postnatally; suggesting tissue specific roles of these candidate genes. Specifically, some genes (HMGA2, GATA4, and TOX3) were highly expressed during the early stages of fetal development in most tissues but least during adulthood. Others including AOPEP/C9orf3, SUOX, and SUMO1P1 were expressed postnatally. Interestingly, HMGA2, RAD50, and YAP1 correlated significantly with each other in at least 5 of the 7 fetal tissues studied. Overall these studies suggest that the predisposition to PCOS could arise during fetal development by alteration of the expression of PCOS candidate genes in multiple organs.