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Article

Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.

Journal of pediatric surgery - 1 Dec 2021

Kapoor Ashish, Nandakumar Priyanka, Auer Dallas R, Sosa Maria X, Ross Holly, Bollinger Juli, Yan Jia, Berrios Courtney, Chakravarti Aravinda

Abstract excerpt

PURPOSE: Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system (ENS) characterized by congenital aganglionosis arising from coding variants in ENS genes causing partial or total loss-of-function. Low-penetrance, common, noncoding variants at RET, SEMA3 and NRG1 loci are also associated with HSCR, with small-to-moderate loss of gene expression mediated through sequence variants in...

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Identifiers

PMID: 34006365
DOI: 10.1016/j.jpedsurg.2021.04.010
PMCID: PMC8526751

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.PMID 34006365Read ↗

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 subjectsSemantic proximity Read ↗

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