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The role of RET genomic variants in infantile hypertrophic pyloric stenosis

A Serra1, K Schuchardt, J Genuneit

  • 1University of Ulm, Paediatric Surgery, Ulm, Germany. alexandre.serra@uniklinik-ulm.de

European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [Et Al] = Zeitschrift Fur Kinderchirurgie
|December 16, 2011
PubMed

Insights

Genetic analysis of the RET gene in infantile hypertrophic pyloric stenosis (IHPS) found variants present in patients. However, these RET variants did not show a significant statistical association with IHPS, suggesting a minor role.

Area of Science:

  • Genetics
  • Pediatric Pathology
  • Gastroenterology

Background:

  • Infantile hypertrophic pyloric stenosis (IHPS) is a common congenital condition in newborns, with an estimated incidence of 1-5 per 1000 live births.
  • Familial occurrence suggests a genetic predisposition for IHPS.
  • The RET gene is implicated in the development of the enteric nervous system and has been associated with other gastrointestinal motility disorders like Hirschsprung's disease.

Purpose of the Study:

  • To investigate the association between the RET gene and infantile hypertrophic pyloric stenosis (IHPS).
  • To identify potential RET gene variants in IHPS patients and compare their frequencies with healthy controls.

Main Methods:

  • Sequencing of the entire coding region of the RET gene in 32 IHPS patients.
  • Comparison of genotype frequencies between IHPS patients and 48 healthy controls.
  • Statistical analysis using the Cochran-Armitage trend test and Fisher's exact test.

Main Results:

  • Nineteen RET variants were identified in IHPS patients, including promoter polymorphisms (c.-200 G>A and c.-196 C>A).
  • No statistically significant difference in the frequencies of these variants was observed between IHPS patients and controls.
  • Significant linkage disequilibrium was noted for variants in the promoter region, exons 11, 13, 14, 19, and the 3' UTR.

Conclusions:

  • While RET variants are found in patients with infantile hypertrophic pyloric stenosis, they do not demonstrate a statistically significant association with the condition.
  • The RET gene may play a secondary or adjuvant role in the pathogenesis of IHPS rather than a primary causative one.

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