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

Hirschsprung disease (HSCR) is a neurodevelopmental disorder with a strong genetic component. Common variants of NRG1 contributed to HSCR risk in Asians, and rare variants of ERBB2 and ITGB4 were found to be associated with HSCR. ERBB2 and ITGB4 are partners of Nrg1/ErbB pathway, which is important in HSCR pathogenesis. We aimed to investigate whether common variants in NRG1, ERBB2 and ITGB4 were associated with HSCR in Chinese Han population.

https://www.jpedsurg.org/article/S0022-3468(20)30268-2/fulltext?rss=yes

Source: Journal of Pediatric Surgery - May 13, 2020 Category: Surgery Authors: Zhiliang Wei, Xianxian Yu, Wenjie Wu, Meirong Bai, Yanjiao Lu, Huanlei Song, Yiming Gong, Beilin Gu, Xun Chu, Wei Cai Source Type: research