Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

doi:10.1093/hmg/ddv051

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Article

Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms.

Human molecular genetics - 15 May 2015

Kapoor Ashish, Jiang Qian, Chatterjee Sumantra, Chakraborty Prakash, Sosa Maria X, Berrios Courtney, Chakravarti Aravinda

Abstract excerpt

The risk of Hirschsprung disease (HSCR) is ∼15/100 000 live births per newborn but has been reported to show significant inter-individual variation from the effects of seven common susceptibility alleles at the RET, SEMA3 and NRG1 loci. We show, by analyses of these variants in 997 samples from 376 HSCR families of European ancestry, that significant genetic risk can only be detected at RET (rs2435357 and...

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Identifiers

PMID: 25666438
DOI: 10.1093/hmg/ddv051
PMCID: PMC4406299

Genes

RET
NRG1

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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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