Association between IKBKAP polymorphisms and Hirschsprung's disease susceptibility in Chinese children.

ABSTRACT:

Background

Hirschsprung's disease (HSCR) is a rare congenital disease in which enteric nervous system (ENS) in the distal intestine is absent. HSCR is a disease involving genetic factors and environmental factors. Despite a series of genes have been revealed to contribute to HSCR, many HSCR associated genes were yet not identified. Previous studies had identified that a potential susceptibility gene of HSCR was an inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP). The study aimed to explore the association of genetic variants in IKBKAP and HSCR susceptibility in southern Chinese children.

Methods

Single nucleotide polymorphism (SNPs) were genotyped by the Mass ARRAY iPLEX Gold system (Sequenom, San Diego,

SUBMITTER: Wang N 

PROVIDER: S-EPMC9253937 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature