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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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The advances of genetics research on Hirschsprung's disease

Juntao Ke1,2, Ying Zhu1,2, Xiaoping Miao1,2

  • 1State Key Laboratory of Environment Health (Incubation) Key Laboratory of Environment & Health (Ministry of Education), Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan) Wuhan China.

Pediatric Investigation
|August 28, 2020
PubMed

Insights

Hirschsprung's disease (HSCR) genetics research is advancing. New studies using GWASs/EWASs and NGS identify novel genetic variants and genes contributing to HSCR pathogenesis.

Area of Science:

  • Genetics
  • Developmental Biology
  • Pediatric Surgery

Background:

  • Hirschsprung's disease (HSCR) is a congenital disorder affecting the lower digestive tract due to absent enteric neurons.
  • HSCR affects 1 in 5,000 infants, causing severe constipation and long-term complications.
  • Current genetic understanding explains only a fraction of HSCR risk, necessitating further research.

Purpose of the Study:

  • To review recent advancements in HSCR genetic research.
  • To highlight novel genetic variants and genes identified through advanced technologies.
  • To explore the potential roles of these new findings in HSCR pathogenesis.

Main Methods:

  • Genome-wide and exome-wide association studies (GWASs/EWASs).
  • Next-generation sequencing (NGS) on target genes, whole genome, and whole exome.
  • Review of current literature on HSCR genetics.

Main Results:

  • Identification of previously unknown genetic variants associated with HSCR.
  • Discovery of new candidate genes implicated in HSCR development.
  • Progress in understanding the molecular mechanisms underlying HSCR.

Conclusions:

  • Advanced genomic technologies are crucial for uncovering HSCR genetic underpinnings.
  • Newly identified variants and genes offer new avenues for understanding HSCR pathogenesis.
  • Continued genetic research is essential for improving HSCR diagnosis and treatment.

Keywords:
GeneticsGenome/Exome‐wide association studyHirschsprung's diseaseNext generation sequencing

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