Association of NRG1 and AUTS2 genetic polymorphisms with Hirschsprung disease in a South Chinese population.

ABSTRACT: Hirschsprung disease (HSCR) is a genetic disorder characterized by the absence of enteric ganglia. There are more than 15 genes identified as contributed to HSCR by family-based or population-based approaches. However, these findings were not fulfilled to explain the heritability of most sporadic cases. In this study, using 1470 HSCR and 1473 control subjects in South Chinese population, we replicated two variants in NRG1 (rs16879552, P = 1.05E-04 and rs7835688, P = 1.19E-07), and further clarified the two replicated SNPs were more essential for patients with short-segment aganglionosis (SHSCR) (P = 2.37E-05). We also tried to replicate the most prominent signal (rs7785360) in AUTS2, which was a potential susceptibility gene with HSCR. In our results, in terms of individual association, ma

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC5867083 | biostudies-literature | 2018 Apr

REPOSITORIES: biostudies-literature