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Multiple, independent, common variants overlapping known and putative gut enhancers at <i>RET</i> , <i>SEMA3</i> and <i>NRG1</i> underlie Hirschsprung disease risk in European ancestry subjects

2020-06-08

Abstract excerpt

<h4>Purpose</h4> Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system (ENS) characterized by congenital aganglionosis, and where individual cases harbor coding risk variants in ENS genes. Low-penetrance, common, noncoding variants at RET, SEMA3 and NRG1 loci have been associated in HSCR as well, implicating variable gene expression mediated by cis-regulatory element (CRE) variants...

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Literature Corpus work
b284d179-083a-51df-9ce0-7d94795986c6
DOI
10.1101/2020.06.07.138719
Open publication

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Multiple, independent, common variants overlapping known and putative gut enhancers at <i>RET</i> , <i>SEMA3</i> and <i>NRG1</i> underlie Hirschsprung disease risk in European ancestry subjectsDOI 10.1101/2020.06.07.138719
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