Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

ABSTRACT:

Background

Crohn's disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remains unexplained. Recent studies have demonstrated genetic differences between monozygotic twins, who were long thought to be genetically completely identical.

Results

We aimed to test if somatic mutations play a role in CD etiology by sequencing the genomes and exomes of directly affected tissue from the bowel and blood samples of one and the blood-derived exomes of two further monozygotic discordant twin pairs. Our goal was the identification of mutations present only in the affected twins, pointing to novel candidates for CD susceptibility loci. We present a

SUBMITTER: Petersen BS 

PROVIDER: S-EPMC4102722 | biostudies-literature | 2014 Jul

REPOSITORIES: biostudies-literature