期刊
INFLAMMATORY BOWEL DISEASES
卷 21, 期 5, 页码 1166-1175出版社
OXFORD UNIV PRESS INC
DOI: 10.1097/MIB.0000000000000329
关键词
Crohn's disease; ulcerative colitis; inflammatory bowel disease; genetics; very early onset IBD; immunodeficiency; pediatric; genome-wide association studies; whole exome sequencing
资金
- NIH [HL59561, DK034854, AI50950]
- Helmsley Charitable Trust
- Wolpow Family Chair in IBD Treatment and Research
The pathogenesis of pediatric inflammatory bowel disease (IBD) is only partially understood. Strong evidence implicates a strong genetic component including high monozygotic twin concordance and familial disease phenotype concordance rates. Genome-wide association studies have identified associations between >160 genetic loci and the risk for developing IBD. The roles of implicated genes are largely immune-mediated, although other functions include cellular migration, oxidative stress, and carbohydrate metabolism. Additionally, growing literature describes monogenic causes of IBD that frequently present as infantile or very early-onset IBD. The interplay between IBD risk single nucleotide polymorphisms and rare genetic variants has yet to be determined. Studying patients with very early-onset IBD may elicit genetic factors that could be applied to broader populations of IBD. This review describes what is known about the genetic causes of very early-onset IBD and genetic strategies that may unravel more of the genetic causes of IBD.
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