Open AccessImpact of exome sequencing in inflammatory bowel disease
Author(s) -
Christopher J. Cardinale,
Judith R. Kelsen,
Robert N. Baldassano,
Hákon Hákonarson
Publication year - 2013
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.v19.i40.6721
Subject(s) - exome sequencing , genome wide association study , exome , inflammatory bowel disease , disease , genetic association , genetics , population , computational biology , biology , medicine , bioinformatics , mutation , single nucleotide polymorphism , gene , pathology , genotype , environmental health
Approaches to understanding the genetic contribution to inflammatory bowel disease (IBD) have continuously evolved from family- and population-based epidemiology, to linkage analysis, and most recently, to genome-wide association studies (GWAS). The next stage in this evolution seems to be the sequencing of the exome, that is, the regions of the human genome which encode proteins. The GWAS approach has been very fruitful in identifying at least 163 loci as being associated with IBD, and now, exome sequencing promises to take our genetic understanding to the next level. In this review we will discuss the possible contributions that can be made by an exome sequencing approach both at the individual patient level to aid with disease diagnosis and future therapies, as well as in advancing knowledge of the pathogenesis of IBD.