rs10862001 - PAWR

Magnitude 4.5 · 1 study on file

Reported associations

• A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy - Unknown journal (n.d.) · Unknown authors · PubMed 36352089

  ABSTRACT: Classic bladder exstrophy represents the most severe end of all human congenital anomalies of the kidney and urinary tract and is associated with bladder cancer susceptibility. Previous genetic studies identified one locus to be involved in classic bladder exstrophy, but were limited to a restrict number of cohort. Here we show the largest classic bladder exstrophy genome-wide association analysis to date where we identify eight genome-wide significant loci, seven of which are novel. In these regions reside ten coding and four non-coding genes. Among the coding genes is EFNA1, strongly expressed in mouse embryonic genital tubercle, urethra, and primitive bladder. Re-sequence of EFNA1 in the investigated classic bladder exstrophy cohort of our study displays an enrichment of rare

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