Increased ergothioneine tissue concentrations in carriers of the Crohn’s disease risk-associated 503F variant of the organic cation transporter OCTN1

Abstract excerpt

Accumulating evidence suggests that genetic susceptibility to Crohn’s disease (CD) is driven by loss-of-function mutations in established risk genes such as IBD5 , NOD2/CARD15 , ATG16L1 or IL23R conferring defects in the innate immune response.1 2 Within the IBD5 locus, a coding variant of the organic cation transporter OCTN1 ( SLC22A4 ) has been associated with the risk of CD in Caucasian populations.3 4...

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