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

doi:10.3748/wjg.v18.i2.105

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Jan 14, 2012 (publication date) through Nov 6, 2025

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Jan 14, 2012; 18(2): 105-118
Published online Jan 14, 2012. doi: 10.3748/wjg.v18.i2.105

Table 1 Genetic polymorphisms related to Crohn's disease

Genes and the diagnosis of Crohn’s disease

Genes related to innate pattern recognition receptors

NOD2/CARD15

OCTN

TLR

Genes related to epithelial barrier homeostasis

IBD5

DLG5

Genes related to molecular mimicry and autophagy

ATG16L1

IRGM

LRRK2

Genes related to lymphocyte differentiation

IL23R

STAT3

Genes related to secondary immune response and apoptosis

MHC

HLA

Genes and the prognosis of Crohn’s disease

Genes related to age of Crohn’s disease onset

TNFRSF6B, CXCL9, IL23R, NOD2 , ATG16L1, CNR1, IL-10, MDR1, DLG5, IRGM

Genes related to Crohn’s disease behaviour

Stenotic/structuring behaviour:NOD2, TLR4, IL-12B, CX3CR1, IL-10, IL-6

Penetrating/fistulizing behaviour:NOD2, IRGM, TNF, HLADRB1, CDKAL1

Inflammatory behaviour:HLA

Granulomatous disease:TLR4/CARD15

Genes related to Crohn’s disease location

Upper gastrointestinal:NOD2, MIF

Ileal:IL-10, CRP, NOD2, ZNF365, STAT3

Ileocolonic:ATG16L1, TCF-4 (TCF7L2)

Colonic:HLA, TLR4, TLR1, -2, -6

Genes related to Crohn’s disease activity

HSP70-2, NOD2, PAI-1, CNR1

Genes related to surgery

NOD2 , HLA-G

Genes related to dysplasia and cancer

FHIT

Genes related to extraintestinal manifestations

CARD15, FcRL3, HLADRB*103, HLAB*27 HLA-B*44, HLA-B*35, TNFa-308A, TNF-1031C, STAT3

Pharmacogenetics in Crohn’s disease

CARD15, NAT, TPMT, MDR1, MIF, DLG5, TNF, LTA

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Table 2 Predicted future developments in the genetics of Crohn's disease

What lies ahead in the genetics of Crohn’s disease

Gene-to-gene crosstalk and epistasis

Genome wide association studies

Microarrays

Fine single nucleotide polymorphism analysis

Genetic consortium studies and genome wide scans

Genome-wide association studies

Genetic consortium studies

Future perspectives

Functional studies to understand the mechanisms

Combining genetic data with functional data

Combination of a panel of clinical, biochemical, serological and genetic factors

Functional consequences of polymorphisms

Molecular and cellular mechanisms leading to Crohn's disease

Predict disease outcomes

Redesigning the methods of treatment

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Citation: Tsianos EV, Katsanos KH, Tsianos VE. Role of genetics in the diagnosis and prognosis of Crohn's disease. World J Gastroenterol 2012; 18(2): 105-118
URL: https://www.wjgnet.com/1007-9327/full/v18/i2/105.htm
DOI: https://dx.doi.org/10.3748/wjg.v18.i2.105