Open Access. Powered by Scholars. Published by Universities.®
Articles 1 - 2 of 2
Full-Text Articles in Medicine and Health Sciences
Fto And Mc4r Gene Variants Are Associated With Obesity In Polycystic Ovary Syndrome, Kathryn G. Ewens, Michelle R. Jones, Wendy Ankener, Douglas R. Stewart, Margrit Urbanek, Andrea Dunaif, Richard S. Legro, Angela Chua, Ricardo Azziz, Richard S. Spielman, Mark O. Goodarzi, Jerome F. Strauss Iii
Fto And Mc4r Gene Variants Are Associated With Obesity In Polycystic Ovary Syndrome, Kathryn G. Ewens, Michelle R. Jones, Wendy Ankener, Douglas R. Stewart, Margrit Urbanek, Andrea Dunaif, Richard S. Legro, Angela Chua, Ricardo Azziz, Richard S. Spielman, Mark O. Goodarzi, Jerome F. Strauss Iii
Obstetrics and Gynecology Publications
Polycystic ovary syndrome (PCOS) is the leading cause of anovulatory infertility in women. It is also associated with metabolic disturbances that place women at increased risk for obesity and type 2 diabetes. There is strong evidence for familial clustering of PCOS and a genetic predisposition. However, the gene(s) responsible for the PCOS phenotypes have not been elucidated. This two-phase family-based and case-control genetic study was designed to address the question of whether SNPs identified as susceptibility loci for obesity in genome-wide association studies (GWAS) are also associated with PCOS and elevated BMI. Members of 439 families having at least one …
Epistasis Between Comt And Mthfr In Maternal-Fetal Dyads Increases Risk For Preeclampsia, Lori D. Hill, Timothy P. York, Juan P. Kusanovic, Ricardo Gomez, Lindon J. Eaves, Roberto Romero, Jerome F. Strauss Iii
Epistasis Between Comt And Mthfr In Maternal-Fetal Dyads Increases Risk For Preeclampsia, Lori D. Hill, Timothy P. York, Juan P. Kusanovic, Ricardo Gomez, Lindon J. Eaves, Roberto Romero, Jerome F. Strauss Iii
Obstetrics and Gynecology Publications
Preeclampsia is a leading cause of perinatal morbidity and mortality. This disorder is thought to be multifactorial in origin, with multiple genes, environmental and social factors, contributing to disease. One proposed mechanism is placental hypoxia-driven imbalances in angiogenic and anti-angiogenic factors, causing endothelial cell dysfunction. Catechol-O-methyltransferase (Comt)-deficient pregnant mice have a preeclampsia phenotype that is reversed by exogenous 2-methoxyestradiol (2-ME), an estrogen metabolite generated by COMT. 2-ME inhibits Hypoxia Inducible Factor 1α, a transcription factor mediating hypoxic responses. COMT has been shown to interact with methylenetetrahydrofolate reductase (MTHFR), which modulates the availability of S-adenosylmethionine (SAM), a COMT …