Understanding Celiac Disease by Genomics

Sebo Withoff; Yang Li; Iris Jonkers; Cisca Wijmenga

doi:10.1016/j.tig.2016.02.003

Understanding Celiac Disease by Genomics

Trends Genet. 2016 May;32(5):295-308. doi: 10.1016/j.tig.2016.02.003. Epub 2016 Mar 10.

Authors

Sebo Withoff¹, Yang Li², Iris Jonkers², Cisca Wijmenga²

Affiliations

¹ University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. Electronic address: [email protected].
² University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands.

PMID: 26972670
DOI: 10.1016/j.tig.2016.02.003

Abstract

Celiac disease (CeD) is a complex immune-mediated disease. Genetic studies have implicated 43 predisposing loci that collectively explain some 50% of the genetic variance in CeD. More than ∼90% of CeD-associated single nucleotide polymorphisms (SNPs) localize to the non-coding genome, which we need to better understand to translate genetic knowledge into clinical practice. New genomic technologies and resources are permitting a systematic analysis of the functional elements in the non-coding part of the genome. Here we explain how investigating the regulatory and epigenomic landscape will help to pinpoint the cell types involved in CeD, and the driver genes and gene regulatory networks that are affected by CeD-associated SNPs.

Keywords: autoimmune disease; celiac disease; complex genetics; enhancer; epigenetics; non-coding genome.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Celiac Disease / genetics*
Celiac Disease / physiopathology
Gene Regulatory Networks / genetics*
Genome, Human*
Genomics*
Humans
Polymorphism, Single Nucleotide