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Effect of semaphorin 3C gene variants in multifactorial Hirschsprung disease

Gunadi1, Fiko Ryantono1, Raman Sethi2

  • 1Pediatric Surgery Division, Department of Surgery/Genetics Working Group, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada/Dr. Sardjito Hospital, Yogyakarta, Indonesia.

The Journal of International Medical Research
|February 9, 2021
PubMed

Insights

This study screened the SEMA3C gene in Indonesian Hirschsprung disease (HSCR) patients, identifying a rare variant (rs1527482) as a potential risk factor. This finding contributes to understanding HSCR genetics in Asian populations.

Area of Science:

  • Genetics and Genomics
  • Developmental Biology
  • Medical Genetics

Background:

  • Class 3 semaphorins (SEMA3), including SEMA3C, are implicated in Hirschsprung disease (HSCR) development in Caucasian populations.
  • Genetic variations in SEMA3C may contribute to HSCR pathogenesis in diverse ethnic groups.

Purpose of the Study:

  • To investigate rare and common variants within the SEMA3C gene in Indonesian patients diagnosed with HSCR.
  • To assess the potential role of SEMA3C variants in the etiology of HSCR among an Asian population.

Main Methods:

  • Prospective clinical study involving 55 HSCR patients.
  • DNA sequencing of the SEMA3C gene.
  • Bioinformatics analyses to predict variant impact on protein function.

Main Results:

  • Two SEMA3C variants identified: p.Val337Met (rs1527482) and p.Val579= (rs2272351).
  • The rare variant rs1527482 showed significant overrepresentation in HSCR patients compared to South Asian controls.
  • Bioinformatics predicted rs1527482 to be conserved and functionally damaging to SEMA3C protein; rs2272351 is synonymous and likely benign.

Conclusions:

  • This study provides the first comprehensive analysis of SEMA3C variants in Asian HSCR patients.
  • The SEMA3C variant rs1527482 is identified as a potential risk allele for HSCR in this population.
  • Findings highlight the importance of SEMA3C in HSCR pathogenesis across different ancestries.
Abstract

Keywords:
Damaging effect on protein functionHirschsprung diseaseIndonesiadeleterious conservation scorefounder effectpathogenic variantsemaphorin 3C

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