Principle Investigator: Michael Helmrath, MD, MS

Michael Helmrath, MD, MS, Cincinnati Children's.Secretor status is defined by the fucosyltransferase 2 (FUT2) gene or Secretor gene. Polymorphism in the FUT2 gene has been identified as a key driver of intestinal microbiota and a possible risk factor in metabolic and digestive diseases in several human conditions.

Our preliminary data suggest a correlation between the FUT2 gene and adverse intestinal problems in patients with Hirschsprung’s (HSCR) disease. We hypothesize that secretor status is a risk factor for complicated HSCR and has the potential to predict adverse outcomes. In addition, we suspect changes in intestinal microbial population correlated to both secretor status will be associated with outcome severity.

To test this hypothesis, we will determine if the secretor status is a risk factor of HSCR’s adverse outcomes. Sequencing of single nucleotide polymorphisms related to secretor status and HSCR’s pathogenesis genes will be performed from patients’ DNA samples from our established registries. Secondly, we will analyze the correlation between microbial composition (16S rRNA gene sequencing on stool samples) and HSCR’s complications associated to secretor status. Our data likely will determine the secretor status as a risk factor for HSCR’s adverse outcomes associated to dysbiosis and allow us to further identify appropriate clinical care strategies to improve patient outcomes.