Genetics of inflammatory bowel disease: beyond NOD2

被引：124

作者：

Mirkov, Masa Umicevic ^{[1
]}

Verstockt, Bram ^{[2
,3
,4
]}

Cleynen, Isabelle ^{[5
]}

机构：

[1] Wellcome Trust Sanger Inst, Hinxton, Cambs, England

[2] Univ Cambridge, Sch Clin Med, Dept Med, Cambridge Biomed Campus, Cambridge, England

[3] Univ Cambridge, Sch Clin Med, Cambridge Inst Med Res, Cambridge Biomed Campus, Cambridge, England

[4] Katholieke Univ Leuven, Dept Clin & Expt Med, Translat Res Gastrointestinal Disorders TARGID, Leuven, Belgium

[5] Katholieke Univ Leuven, Dept Human Genet, Leuven, Belgium

来源：

LANCET GASTROENTEROLOGY & HEPATOLOGY | 2017年 / 2卷 / 03期

基金：

英国惠康基金;

关键词：

GENOME-WIDE ASSOCIATION; COLITIS-RISK LOCI; CROHNS-DISEASE; CONFER SUSCEPTIBILITY; SKIN-LESIONS; VARIANTS; COMMON; MANIFESTATIONS; GENOTYPE; THERAPY;

D O I：

10.1016/S2468-1253(16)30111-X

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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.

引用

页码：224 / 234

页数：11

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