Common variants of NRG1 and ITGB4 confer risk of Hirschsprung disease in Han Chinese population

Genetic association study of 420 Hirschsprung disease patients and 1665 controls validates that common variants in NRG1 and ITGB4 genes significantly increase disease risk in Chinese Han population. Findings reinforce the critical role of the Nrg1/ErbB signaling pathway in enteric nervous system development and HSCR pathogenesis.