Maternal Vitamin A Status as a Risk Factor of Hirschsprung Disease in the Child.

ABSTRACT:

Introduction

The gene-environment interaction of the REarranged during Transfection ( RET ) gene with vitamin A in the etiopathogenesis of Hirschsprung disease (HSCR) has been suggested in rodents. The aim of this study was to evaluate vitamin A status in mothers of children with HSCR and to assess its association with pathogenic variants of the RET gene in affected children.

Methods

This was a case-control study of stable isotope-based vitamin A measurement stores of mothers of children diagnosed with HSCR (within 8 months from birth, n = 7) and age-matched mothers of normal children (n = 6). Next-generation sequencing of RET exons, along with their upstream promoter region, was performed in the 7 HSCR proband-parent triads to evaluate pathogenic variants.

Results

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SUBMITTER: Hegde SG 

PROVIDER: S-EPMC10522106 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature