NOD2

Risk Description

The risk ‘T’ allele of C2104T in the NOD2 gene is associated with an increased risk of Crohn’s disease and other digestive disorders such as inflammatory bowel disease (IBD) or irritable bowel syndrome (IBS). In those carrying one copy of the ‘T’ allele their risk is increased 3 times, whereas those carrying two copies of the ‘T’ allele are at 35 times the risk of developing Crohn’s disease ^2–4.

It is unclear exactly how this SNP leads to an increased risk of developing Crohn’s disease. However, based on its role in the immune system it seems likely that the ‘T’ allele leads to the formation of a more sensitive NOD2 receptor, which generates an immune response much more readily.

Risk Description

The risk ‘C’ allele of G30491C in the NOD2 gene is associated with an increased risk of Crohn’s disease and other digestive disorders such as IBD/IBS, and also psoriatic arthritis.

It is also possible for G30491T to occur, where ‘T’ also functions as a risk allele, it is unclear if this is to the same extent as the more common ‘C’ risk allele ⁵.

In those carrying one copy of the ‘C’ allele their risk for developing Crohn’s disease is increased 3 times, whereas those carrying two copies of the ‘C’ allele are at 35 times the risk ^2–4.

It is unclear exactly how this SNP leads to an increased risk of developing Crohn’s disease. However, based on its role in the immune system, and its involvement in the development of psoriatic arthritis it seems likely that the ‘C/T’ allele leads to the formation of a more sensitive NOD2 receptor, which generates an immune response much more readily.