More than 30 distinct genes
, or presumed locations of genes (loci
), have been suggested to be related to CD, including those related to susceptibility, age of onset, disease location, diagnosis, and prognosis.
So far, the strongest associations with CD have been found with the NOD2
(also called CARD15
The search for specific susceptibility genes (genes in which variations may increase a person's risk) has been difficult due to complex genetics, including factors such as the lack of simple inheritance patterns and involvement of several genes. Studies have already led to the identification of a number of susceptibility genes: NOD2, DLG5, OCTN1
(also called SLC22A4
), NOD1, IL23R, PTGER4, ATG16L1
. The NOD2
gene is currently the most replicated and understood.
With respect to age of CD onset and more specifically to childhood or early-onset Crohn’s disease, the following genes/loci have been implicated: TNFRSF6B, CXCL9, IL23R, NOD2
, ATG16L1 rs2241880, CNR1, IL-10
, and MDR1
(also called ABCB1
In terms of genes related to CD location, studies have suggested that upper GI Crohn’s disease has been related to NOD2
variants. Ileal CD has been related to the IL-10
, NOD2, ZNF365
genes. Genes/loci associated with ileocolonic CD are 3p21, ATG16L1
Variations in a number of genes have also been found to be associated with other aspects of CD, such as disease behavior, risk for cancer, and presence of extraintestinal manifestations.
To view a free, full-text journal article published in 2012 about the role of genetics in CD, click here
. To view only a table from this article listing the genes that appear to be associated with Crohn's disease, click here
Because the information provided here is complex, individuals seeking to better understand this information may benefit from meeting with a genetics professional or other qualified health care provider.
Last updated: 10/16/2012
Last updated: 7/15/2016
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
GARD Information Specialist
Please see our Disclaimer.