Understanding Celiac Disease by Genomics

作者：Withoff Sebo; Li Yang; Jonkers Iris; Wijmenga Cisca

来源：Trends in Genetics, 2016, 32(5): 295-308.

DOI：10.1016/j.tig.2016.02.003

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 similar to 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.

• 出版日期2016-5