摘要
Hirschsprung's disease(HSCR)is a rare and complex congenital disorder characterized by the absence of the enteric neurons in lower digestive tract with an incidence of 1/5 000.Affected infant usually suffer from severe constipation with megacolon and distended abdomen,and face long-term complications even after surgery.In the last 2 decades,great efforts and progresses have been made in understanding the genetics and molecular biological mechanisms that underlie HSCR.However,only a small fraction of the genetic risk can be explained by the identified mutations in the previously established genes.To search novel genetic alterations,new study designs with advanced technologies such as genome/exome-wide association studies(GWASs/EWASs)and next generation sequencing(NGS)on target genes or whole genome/exome,were applied to HSCR.In this review,we summaries the current development of the genetics researches on HSCR based on GWASs/EWASs and NGS,focusing on the newly discovered variants and genes,and their potential roles in HSCR pathogenesis.
