Genomics | Medical Genetics | Reproductive Endocrinology & Infertility
Candidate pathway genetic analysis of PCOS
Margrit Urbanek*, Obed Garcia, Teresa K Woodruff, Richard S Legro, Andrea Dunaif, Priscilla Mutharasan
*Corresponding author: Margrit Urbanek
Division of Endocrinology, Metabolism and Molecular Medicine, Northwestern University Feinburg School of Medicine, Chicago, IL, USA
F1000Posters 2012, 3: 531 (poster) [English]
Joint 15th International Congress of Endocrinology and 14th European Congress of Endocrinology (ICE/ECE) 2012, 5 - 9 May 2012, P935
In order to determine which biological pathways contribute to the etiology of polycystic ovary syndrome (PCOS), we tested for association with PCOS in 4930 SNPs mapping to 296 genes in 905 women with PCOS and 956 control women. This analysis queried four pathways that are likely to be impacted in PCOS: ovarian rigidity (genes differentially expressed in cultured mouse follicles within permissive (less rigid) and non-permissive (more rigid) hydrogels), TGF beta signaling, insulin resistance, diabetes and obesity, and inflammation.
Genes associated with obesity and diabetes are also associated with PCOS, although different variants are associated with PCOS than are associated with obesity or diabetes.
These findings will need to be replicated in an independent cohort of PCOS subjects.
No relevant competing interests disclosed.
National Institutes of Health (NIH), American Diabetes Association, R01HD057450, P50HD044405, M01RR00048, M01RR10732, C06RR016499, and M01RR02635, ADA Career Development Award 7-09-CD-13
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