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
Review
. 2012 Jan 14;18(2):105-18.
doi: 10.3748/wjg.v18.i2.105.

Role of genetics in the diagnosis and prognosis of Crohn's disease

Epameinondas V Tsianos  1 , Konstantinos H Katsanos, Vasileios E Tsianos
Affiliations
Review

Role of genetics in the diagnosis and prognosis of Crohn's disease

Epameinondas V Tsianos et al. World J Gastroenterol. .

Abstract

Considering epidemiological, genetic and immunological data, we can conclude that the inflammatory bowel diseases are heterogeneous disorders of multifactorial etiology in which hereditability and environment interact to produce the disease. It is probable that patients have a genetic predisposition for the development of the disease coupled with disturbances in immunoregulation. Several genes have been so far related to the diagnosis of Crohn's disease. Those genes are related to innate pattern recognition receptors, to epithelial barrier homeostasis and maintenance of epithelial barrier integrity, to autophagy and to lymphocyte differentiation. So far, the most strong and replicated associations with Crohn's disease have been done with NOD2, IL23R and ATG16L1 genes. Many genes have so far been implicated in prognosis of Crohn's disease and many attempts have been made to classify genetic profiles in Crohn's disease. CARD15 seems not only a susceptibility gene, but also a disease-modifier gene for Crohn's disease. Enriching our understanding on Crohn's disease genetics is important but when combining genetic data with functional data the outcome could be of major importance to clinicians.

Keywords: Crohn’s; Diagnosis; Genetic consortium; Genetics; Genome wide scan; Polymorphism; Prognosis.

PubMed Disclaimer

References

    1. Achkar JP, Duerr R. The expanding universe of inflammatory bowel disease genetics. Curr Opin Gastroenterol. 2008;24:429–434. - PubMed
    1. Van Limbergen J, Wilson DC, Satsangi J. The genetics of Crohn’s disease. Annu Rev Genomics Hum Genet. 2009;10:89–116. - PubMed
    1. van Heel DA, Ghosh S, Butler M, Hunt KA, Lundberg AM, Ahmad T, McGovern DP, Onnie C, Negoro K, Goldthorpe S, et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn’s disease. Lancet. 2005;365:1794–1796. - PubMed
    1. Yamamoto S, Ma X. Role of Nod2 in the development of Crohn’s disease. Microbes Infect. 2009;11:912–918. - PMC - PubMed
    1. Colombel JF. The CARD15 (also known as NOD2) gene in Crohn’s disease: are there implications for current clinical practice? Clin Gastroenterol Hepatol. 2003;1:5–9. - PubMed

MeSH terms