Study of Polymorphisms Associated to Hirschsprung Disease in Spanish Population

Abstract

Background and aims: Hirschsprung disease (HSCR) is a congenital disorder characterized by the absence of ganglion cells along the gastrointestinal tract. It is caused by defects in the migration of enteric nervous system cells during the embryonic development. Improved surgical treatments have reduced the mortality of the patients, which facilitates the genetic study of patients and their families. The inheritance pattern of this disease is still unknown, but the RET proto-oncogene is the major gene involved. There are several mutations and polymorphisms (SNPs) described in RET as associated to the disease, suggesting a genetic predisposition in the HSCR population. Our goal is to find and analyze these disease-associated SNPs and establish a genetic model.