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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by

Kate V Everett1, Barry A Chioza, Christina Georgoula

  • 1Molecular Medicine Unit, University College London Institute of Child Health, London, UK. kate.everett@ucl.ac.uk

Human Genetics
|August 25, 2009
PubMed

Insights

Infantile hypertrophic pyloric stenosis (IHPS) is a common infant gastrointestinal obstruction. Genetic analysis suggests a new locus on chromosome 3q12-q25, implicating TRPC1 in IHPS.

Area of Science:

  • Genetics
  • Pediatrics
  • Molecular Biology

Background:

  • Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited gastrointestinal obstruction in infants, characterized by gastric outlet obstruction due to pyloric smooth muscle hypertrophy.
  • Previous studies identified two IHPS-associated loci on chromosomes 11q14-q22 and Xq23-q24, linked to the TRPC5 and TRPC6 ion channel genes, respectively.

Purpose of the Study:

  • To investigate potential novel genetic loci associated with infantile hypertrophic pyloric stenosis (IHPS).
  • To explore the role of the canonical transient receptor potential (TRPC) gene family in the etiology of IHPS.

Main Methods:

  • Genome-wide scan and linkage analysis to identify chromosomal regions associated with IHPS.
  • Fine mapping using tagSNP and re-sequencing to identify potential causal variants within candidate genes.
  • Analysis of canonical transient receptor potential (TRPC) family genes, including TRPC1, TRPC5, and TRPC6.

Main Results:

  • Suggestive evidence for a third IHPS locus on chromosome 3q12-q25 (Zmax = 2.7, p < 0.004), a region containing the TRPC1 gene.
  • Identification of a single nucleotide polymorphism (SNP) in the TRPC6 promoter region and a missense variant in exon 4 of TRPC6.
  • These variants in TRPC6 are considered putative causal variants for IHPS.

Conclusions:

  • A novel locus on chromosome 3q12-q25, potentially implicating TRPC1, is associated with infantile hypertrophic pyloric stenosis (IHPS).
  • Specific variants in the TRPC6 gene may play a causal role in the development of IHPS.
  • Further research into TRPC ion channels is warranted for understanding IHPS pathogenesis.

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