Genetics of inflammatory bowel disease: beyond NOD2

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• 作者：Ma&scaron ; a Umićević Mirkov ; PhD^a ; Bram Verstockt ; MD^b ; ^c ; Dr Isabelle Cleynen ; PhD^d ; ^{isabelle.cleynen@kuleuven.be}
• 刊名：The Lancet Gastroenterology & Hepatology
• 出版年：2017
• 出版时间：March 2017
• 年：2017
• 卷：2
• 期：3
• 页码：224-234
• 全文大小：549 K
• 卷排序：2

文摘

The study of the genetic underpinnings of inflammatory bowel disease has made great progress since the identification of NOD2 as a major susceptibility gene. Novel genotyping and sequencing technologies have led to the discovery of 242 common susceptibility loci, 45 of which have been fine-mapped to statistically conclusive causal variants; 50 genes associated with very-early-onset inflammatory disease have been identified. The evolving genetic architecture of inflammatory bowel disease has deepened our understanding of its pathogenesis through identification of major disease associated pathways—knowledge that has the potential to indicate novel drug targets or markers for personalised medicine. However, many causal variants have yet to be identified, and a large proportion of missing heritability still needs to be accounted for. In addition, the medical and scientific communities are probably not yet fully harnessing the power of these genetic discoveries.