Open AccessThe advances of genetics research on Hirschsprung's disease
Author(s) -
Ke Juntao,
Zhu Ying,
Miao Xiaoping
Publication year - 2018
Publication title -
pediatric investigation
Language(s) - English
Resource type - Journals
ISSN - 2574-2272
DOI - 10.1002/ped4.12062
Subject(s) - genome wide association study , megacolon , biology , exome sequencing , hirschsprung's disease , disease , exome , molecular genetics , genetics , bioinformatics , gene , medicine , mutation , pathology , single nucleotide polymorphism , genotype
Abstract 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 ( GWAS s/ EWAS s) 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 GWAS s/ EWAS s and NGS , focusing on the newly discovered variants and genes, and their potential roles in HSCR pathogenesis.