Evaluation of variation in genes of the arylhydrocarbon receptor pathway for an association with multiple sclerosis

Abstract The aryl hydrocarbon receptor (AhR) contributes to immune regulation in autoimmune diseases such as multiple sclerosis (MS). Analysis of selected polymorphisms in AhR pathway genes in 805 MS patients and 1023 controls revealed a modest association of a CYP1B1 polymorphism with secondary progressive MS that became more pronounced in combination with other SNPs in the pathway, suggesting interactive effects. Additionally, first evidence for an interaction with smoking was found, but due to small sample sizes statistical significance was only nominal. Confirmation of these results in independent cohorts is recommended, since targeting the AhR constitutes a therapeutic option for autoimmune diseases.