Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2013 Jul 16:6:25-32.
doi: 10.2147/TACG.S33966. Print 2013.

Genetic variants associated with Crohn's disease

Sonia Michail  1 , Gilberto Bultron, R William Depaolo
Affiliations

Genetic variants associated with Crohn's disease

Sonia Michail et al. Appl Clin Genet. .

Abstract

Crohn's disease is an immune-related disorder characterized by inflammation of the gastrointestinal mucosa, which can occur in any area throughout the digestive tract. This life-long disease commonly presents with abdominal pain, diarrhea, vomiting, and weight loss. While the exact etiology of this disease is largely unknown, it is thought to arise from an interaction between microbial, immunological, and environmental factors in a genetically susceptible host, whereby the immune system attacks the intestine as it cross reacts against gut microbial antigens. The study of genetic variants associated with Crohn's disease has shed light on our understanding of disease pathophysiology. A large number of genetic variants identified in Crohn's disease are related to genes targeting microbial recognition and bacterial wall sensing, the most common being NOD2/CARD15 gene. This review will discuss the recent advance in our knowledge of genetic variants of this disease and how they influence the disease course and prognosis.

Keywords: Crohn’s disease; autophagy; genetics.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Genes of the autophagy pathway implicated in Crohn’s disease susceptibility. Notes: There are several phases in the autophagic pathway. Initiation is the formation of the preautophagolysosome, elongation, maturation, followed by fusion of the lysosome and degradation of the cargo. Abbreviations: LRRK2, leucine-rich repeat kinase 2; IRGM, immunity-related GTPase family M protein; NOD2, nucleotide-binding oligomerization domain-containing protein 2; CARD15, caspase recruitment domain-containing protein 15; ATG16L1, autophagy-related protein 16–1; GTP, guanosine triphosphate; ULK1, serine/threonine kinase.
See this image and copyright information in PMC

References

    1. Mathew CG. New links to the pathogenesis of Crohn disease provided by genome-wide association scans. Nat Rev Genet. 2008;9(1):9–14. - PubMed
    1. Benchimol EI, Guttmann A, To T, Rabeneck L, Griffiths AM. Changes to surgical and hospitalization rates of pediatric inflammatory bowel disease in Ontario, Canada (1994–2007) Inflamm Bowel Dis. 2011;17(10):2153–2161. - PubMed
    1. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet. 2007;39(5):596–604. - PMC - PubMed
    1. Hampe J, Franke A, Rosenstiel P, et al. A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1. Nat Genet. 2007;39(2):207–211. - PubMed
    1. Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn’s disease susceptibility. Nat Genet. 2007;39(7):830–832. - PMC - PubMed

LinkOut - more resources