Project Details

Genetic Analysis of Two Deeply Phenotyped Bladder Exstrophy Populations of South Asian and European Origin

John Weaver, MD

Summary

BACKGROUND: Bladder exstrophy (BE) is a devastating congenital abnormality of the urinary tract in which infants are born with the urinary bladder extruded through their abdominal wall, a urethra that is open dorsally, and significant secondary abnormalities of the genitalia. Despite major surgical reconstruction, patients born with BE suffer from long term issues with voiding and continence, sexual dysfunction, infertility, mental health, an increased risk of bladder cancer, and an increased risk of renal dysfunction and renal failure. GAP: Due to a scarcity of quality research, experts are still unsure of the embryologic origins and genetic mechanisms that give rise to BE. To date no genetic association studies have been performed on non-European BE patients. HYPOTHESIS: We hypothesize that our genetically unique, South Asian, homogeneous population provides a rare opportunity for gene discovery with significant implications for understanding and potentially modifying the genetic mechanisms responsible for BEEC. These findings will also, when combined with European findings, be generalizable to more geo-ethnic genetic populations. METHODS: In a descriptive and analytic genetic study of 100 bladder exstrophy-epispadias complex (BEEC) patients of South Asian origin and 98 BEEC patients of European origin we will identify and validate genomic regions associated with BEEC through three non-overlapping methods. RESULTS: Pending. IMPACT: Our genetically unique, non-European, homogeneous population provides a rare opportunity for gene discovery with significant implications for understanding and potentially modifying the genetic mechanisms responsible for BE.