Neurotrophin-3 rs1805149A>G variant in Hirschsprung disease: An investigative study.

Abstract

Background: Hirschsprung disease (HSCR) is a congenital disorder of the enteric nervous system (ENS) caused by defective migration of neural crest cells. Genetic factors, including neurotrophic genes such as neurotrophin-3 (NTF3), may contribute to its pathogenesis.

Aim: To investigate the association between the NTF3 rs1805149A>G variant and susceptibility to HSCR in a southern Chinese Han population. In addition, this study also aims to provide population-specific genetic data on HSCR and to explore whether this neurotrophin-related variant contributes to disease pathogenesis, potentially broadening the spectrum of candidate genes implicated in ENS development.

Methods: A study was conducted involving 1470 HSCR patients and 1473 healthy controls. Genomic DNA was extracted and genotyping of the NTF3 rs1805149 variant was performed using a TaqMan real-time PCR system. Genotype and allele frequencies were analyzed using χ ² tests.

Results: The distribution of genotypes (AA, AG, GG) and allelic frequencies (A and G) showed no statistically significant differences between HSCR patients and controls. No association was found between the rs1805149 variant and specific clinical subtypes of HSCR.

Conclusion: The NTF3 rs1805149A>G variant does not appear to be associated with HSCR susceptibility in the studied southern Chinese cohort. Further studies with larger sample sizes and multi-gene analysis are warranted to better understand the genetic basis of HSCR.