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Bladder exstrophy-epispadias complex (BEEC), the severe end of the urorectal malformation spectrum, has a profound impact on continence as well as sexual and renal functions. It is widely accepted that for the majority of cases the genetic basis appears to be multifactorial. Here, we report the first study which utilizes genome-wide association methods to analyze a cohort comprising patients presenting the most common BEEC form, classic bladder exstrophy (CBE), to identify common variation associated with risk for isolated CBE. We employed discovery and follow-up samples comprising 218 cases/865 controls and 78 trios in total, all of European descent. Our discovery sample identified a marker near  SALL1 , showing genome-wide significant association with CBE. However, analyses performed on follow-up samples did not add further support to these findings. We were also able to identify an association with CBE across our study samples (discovery:  P  = 8.88 × 10 −5 ; follow-up:  P  = 0.0025; combined: 1.09 × 10 −6 ) in a highly conserved 32 kb intergenic region containing regulatory elements between  WNT3  and  WNT9B . Subsequent analyses in mice revealed expression for both genes in the genital region during stages relevant to the development of CBE in humans. Unfortunately, we were not able to replicate the suggestive signal for  WNT3  and  WNT9B  in a sample that was enriched for non-CBE BEEC cases ( P  = 0.51). Our suggestive findings support the hypothesis that larger samples are warranted to identify association of common variation with CBE.

human molecular genetics

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between  WNT3  and  WNT9b  as possible susceptibility locus for isolated classic exstrophy of the bladder