Genome-wide Association Study and Meta-Analysis Identify as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

The etiology of classic exstrophy of the bladder (CBE) remains unclear. The present genome-wide association study and meta-analysis identified an association between CBE and a region on chromosome 5q11.1. This region contains the gene encoding insulin gene enhancer protein, ISL-1. In this region, 138 single nucleotide polymorphisms (SNPs) reached genome-wide significance, with the SNP rs9291768 showing the lowest P value (p = 2.13 x 10−12). Our findings, as supported by expression analyses in murine models, suggest that ISL1 is a susceptibility gene for CBE.

Vyšlo v časopise: Genome-wide Association Study and Meta-Analysis Identify as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy. PLoS Genet 11(3): e32767. doi:10.1371/journal.pgen.1005024
Kategorie: Research Article
prolekare.web.journal.doi_sk: 10.1371/journal.pgen.1005024


The etiology of classic exstrophy of the bladder (CBE) remains unclear. The present genome-wide association study and meta-analysis identified an association between CBE and a region on chromosome 5q11.1. This region contains the gene encoding insulin gene enhancer protein, ISL-1. In this region, 138 single nucleotide polymorphisms (SNPs) reached genome-wide significance, with the SNP rs9291768 showing the lowest P value (p = 2.13 x 10−12). Our findings, as supported by expression analyses in murine models, suggest that ISL1 is a susceptibility gene for CBE.


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