Associations of CYP2B6 genetic polymorphisms with Hirschsprung’s disease in a southern Chinese population

Abstract

Hirschsprung's disease (HSCR) is a congenital gastrointestinal (GI) disease in which submucosal and intramuscular plexus ganglion cells are lacking in the intestinal wall of the distal digestive tract, which is caused by developmental disorders of the enteric nervous system during embryonic development. 1 The occurrence of HSCR shows sex-related and racial disparities, with a male-to-female ratio of 4/1 and a higher incidence in Asia, including China (1/3500 vs. 1/5000). 2 Hirschsprung's disease can be divided into 3 subtypes depending on the length of the aganglionic tract, including short-segment HSCR (S-HSCR), long-segment HSCR (L-HSCR), and total colonic aganglionosis (TCA), with the rare occurrence of cumulative full-bowel megacolon. 3 In addition, according to the presence or absence of other