Genetic Determinants of Pelvic Floor Disorders

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DESCRIPTION (provided by applicant): Pelvic floor disorders (PFDs) affect one third of adult women and result in surgery for one in nine women, still liffle is known about the etiology or prevention of these conditions. This proposal is unique in proposing to study of the heritability of pelvic floor disorders in an effort to shed new light on their causes. Of the known risk factors for PFDs, only family history identifies women at risk before the major inciting and promoting factors transpire. The broad, long-term objectives of this proposal are to establish the genetic determinants of PFDs and to identify genes that may contribute to the development of these conditions. The specific aims of this proposal are 1) to identif~r PFD phenotypes that are most likely to have a genetic component through detailed clinical information collected from affected sister pairs identified through the Utah Continence Center patient database and 2) to test likely candidate genes using genetic linkage analysis of affected sister pairs. These sibling pairs will be prioritized based on phenotype concordance, controlling for the effect of known risk factors on each affected sister pair. Successful completion of our genetic analysis should lead to characterization of the genetic contribution to these disorders, allow pre-symptomatic identification of patients at risk, and substantially advance our understanding of the disease processes in PFDs. Our application shows that the University of Utah Health Sciences Center combines a unique patient population with experienced clinicians, geneticists, and genetic epidemiologists necessary to this project.