Is Whole Exome Sequencing Clinically Practical in the Management of Pediatric Crohn's Disease?

ABSTRACT:

Background/aims

The aim of this study was to identify the profile of rare variants associated with Crohn's disease (CD) using whole exome sequencing (WES) analysis of Korean children with CD and to evaluate whether genetic profiles could provide information during medical decision making.

Methods

DNA samples from 18 control individuals and 22 patients with infantile, very-early and early onset CD of severe phenotype were used for WES. Genes were filtered using panels of inflammatory bowel disease (IBD)-associated genes and genes of primary immunodeficiency (PID) and monogenic IBD.

Results

Eighty-one IBD-associated variants and 35 variants in PID genes were revealed by WES. The most frequently occurring variants were carried by nine (41%) and four (18.2%) CD probands a

SUBMITTER: Oh SH 

PROVIDER: S-EPMC4625707 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature