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Christopher J. Moran, Christoph Klein, Aleixo M. Muise, Scott B. Snapper, Very Early-onset Inflammatory Bowel Disease: Gaining Insight Through Focused Discovery, Inflammatory Bowel Diseases, Volume 21, Issue 5, 1 May 2015, Pages 1166–1175, https://doi.org/10.1097/MIB.0000000000000329
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Abstract
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.