Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease.

ABSTRACT:

Background

Hirschsprung disease (HSCR) is a neurocristopathy characterized by absence of intramural ganglion cells along variable lengths of the gastrointestinal tract in neonates. Three polymorphisms, rs2435357, within a conserved transcriptional enhancer of RET, and, rs7835688 and rs16879552, within intron 1 of NRG1, have been shown to be associated with isolated forms of HSCR. We wished to replicate these findings, and study the interactions between these variants, in Indonesian HSCR patients.

Methods

Sixty isolated HSCR patients and 124 controls were ascertained for this study. The three genetic markers were examined using TaqMan Genotyping Assays in genomic DNA for association studies.

Results

RET rs2435357 showed the strongest association with HSCR both by case-

SUBMITTER: Gunadi 

PROVIDER: S-EPMC4258000 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature