Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

Rogier Hintzen and colleagues report the results of a search for genetic variants associated with susceptibility to multiple sclerosis in a genetically isolated population that lead to identification of a new susceptibility locus in the region of the KIF1B gene on chromosome 1. The few loci associated with multiple sclerosis (MS) are all related to immune function. We report a GWA study identifying a new locus replicated in 2,679 cases and 3,125 controls. An rs10492972[C] variant located in the KIF1B gene was associated with MS with an odds ratio of 1.35 ( P = 2.5 × 10 −10 ). KIF1B is a neuronally expressed gene plausibly implicated in the irreversible axonal loss characterizing MS in the long term.