Understanding Celiac Disease by Genomics

详细信息    查看全文

• 作者：Sebo Withoff¹ ; ^{s.withoff@umcg.nl" class="auth_mail" title="E-mail the corresponding author} ; Yang Li¹ ; Iris Jonkers¹ ; Cisca Wijmenga¹
• 关键词：celiac disease ; autoimmune disease ; complex genetics ; non-coding genome ; epigenetics ; enhancer
• 刊名：Trends in Genetics
• 出版年：2016
• 出版时间：May 2016
• 年：2016
• 卷：32
• 期：5
• 页码：295-308
• 全文大小：2495 K

文摘

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.