Association of Neuregulin 1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C Polymorphisms with Susceptibility to Non-Syndromic Hirschsprung’s Disease

Abstract

Background Hirschsprung’s disease (HSCR) is a heterogeneous congenital malformation of the enteric nervous system with a complex genetic etiology. We investigated if there was an association between Neuregulin-1 (NRG1) rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms and the risk of HSCR. Methods: We determined and compared the frequency of NRG1 polymorphisms rs7835688 G > C, rs16879552 T > C and rs2439302 G > C in 70 children with HSCR and 90 controls by TaqMan SNPs genotyping assays. Results: No significant differences in allele or genotype frequencies of NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were observed between HSCR cases and controls. Analyses showed that the NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms were not significantly associated with an increased risk of non-syndromic HSCR. Conclusions: Our findings suggested that NRG1 rs7835688 G > C, rs16879552 T > C and rs2439302 G > C polymorphisms are not a risk factor in development of HSCR.

Keywords:

• Hirschsprung’s disease
• non-syndromic
• Neuregulin 1
• association
• polymorphism

Acknowledgments

We specially thank Mrs. Sahel Khajehnoori (who is currently working in the Mother and Newborn Health Research Center, Shahid Sadoughi University of Medical Sciences) for her help in revising the grammar issue of this manuscript.

Conflicts of interest

The authors have no conflicts of interest to declare.