Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

• Published in: Nature genetics Vol. 40; no. 12; pp. 1402 - 1403
• Main Authors: Van Broeckhoven, Christine, Dessa Sadovnick, A, Del-Favero, Jurgen, Greiner, Eva, van Duijn, Cornelia M, Oostra, Ben A, Goossens, Dirk, Hintzen, Rogier Q, Link, Jenny, Hoppenbrouwers, Ilse A, Broer, Linda, Ramagopalan, Sreeram V, Aulchenko, Yurii S, Hillert, Jan, Lundström, Wangko, Jafari, Naghmeh, Ebers, George C
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.12.2008; Nature Publishing Group
• Subjects: Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biological variation; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Case-Control Studies; Data collection; Disease susceptibility; Family physicians; Fundamental and applied biological sciences. Psychology; Gene Function; Gene loci; Genetic aspects; Genetic diversity; Genetic Predisposition to Disease; Genetic variation; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genome-Wide Association Study; Human Genetics; Immune response; Introns; Kinesin - genetics; Medical sciences; Medicin och hälsovetenskap; Multiple sclerosis; Multiple Sclerosis - genetics; Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis; Neurology; Regression analysis; Risk factors; Netherlands; Nervous system diseases; Multiple sclerosis; Sensitivity; Genetic variability; Genetic variant; Susceptibility locus; Central nervous system disease; Inflammatory disease
• ISSN: 1061-4036; 1546-1718; 1546-1718
• DOI: 10.1038/ng.251

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.