Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

doi:10.1073/pnas.0809630105

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Article

Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease.

Proceedings of the National Academy of Sciences of the United States of America - 24 Feb 2009

Garcia-Barcelo Maria-Mercè, Tang Clara Sze-Man, Ngan Elly Sau-Wai, Lui Vincent Chi-Hang, Chen Yan, So Man-Ting, Leon Thomas Yuk-Yu, Miao Xiao-Ping, Shum Cathy Ka-Yee, Liu Feng-Qin, Yeung Ming-Yiu, Yuan Zhen-Wei, Guo Wei-Hong, Liu Lei, Sun Xiao-Bing, Huang Liu-Ming, Tou Jin-Fa, Song You-Qiang, Chan Danny, Cheung Kenneth M C, Wong Kenneth Kak-Yuen, Cherny Stacey S, Sham Pak-Chung, Tam Paul Kwong-Hang

Abstract excerpt

Hirschsprung's disease (HSCR), or aganglionic megacolon, is a congenital disorder characterized by the absence of enteric ganglia in variable portions of the distal intestine. RET is a well-established susceptibility locus, although existing evidence strongly suggests additional loci contributing to sporadic HSCR. To identify these additional genetic loci, we carried out a genome-wide association study using the...

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Identifiers

PMID: 19196962
DOI: 10.1073/pnas.0809630105
PMCID: PMC2650328

Genes

NRG1
RET

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