Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis


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.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

Figure 1: Association of MS with KIF1B region in a Dutch genetically isolated population.


  1. Ebers, G.C. Lancet Neurol. 7, 268–277 (2008).

    Article  Google Scholar 

  2. Hafler, D.A. et al. N. Engl. J. Med. 357, 851–862 (2007).

    Article  CAS  Google Scholar 

  3. Lundmark, F. et al. Nat. Genet. 39, 1108–1113 (2007).

    Article  CAS  Google Scholar 

  4. Aulchenko, Y.S. et al. Eur. J. Hum. Genet. 12, 527–534 (2004).

    Article  CAS  Google Scholar 

  5. Hoppenbrouwers, I.A. et al. Mult. Scler. 13, 17–24 (2007).

    Article  CAS  Google Scholar 

  6. Zhao, C. et al. Cell 105, 587–597 (2001).

    Article  CAS  Google Scholar 

  7. Kijima, K., Numakura, C. & Izumino, H. Hum. Genet. 116, 23–27 (2005).

    Article  CAS  Google Scholar 

  8. Dutta, R. & Trapp, B.D. Neurology 68, S22–S31 (2007); discussion 68, S43–S54 (2007).

    Article  Google Scholar 

  9. Dutta, R. et al. Ann. Neurol. 59, 478–489 (2006).

    Article  CAS  Google Scholar 

  10. Craner, M.J. et al. Proc. Natl. Acad. Sci. USA 101, 8168–8173 (2004).

    Article  CAS  Google Scholar 

  11. Waxman, S.G. Ann. Neurol. 63, 411–413 (2008).

    Article  Google Scholar 

  12. Boldogh, I.R. & Pon, L.A. Trends Cell Biol. 17, 502–510 (2007).

    Article  CAS  Google Scholar 

  13. Nangaku, M. et al. Cell 79, 1209–1220 (1994).

    Article  CAS  Google Scholar 

  14. Service, S. et al. Nat. Genet. 38, 556–560 (2006).

    Article  CAS  Google Scholar 

  15. Hoppenbrouwers, I.A. et al. Genes Immun 9, 334–337 (2008).

    Article  CAS  Google Scholar 

Download references


This study was supported by grants from MS Research Netherlands (R.Q.H. and C.M.v.D.), the Erasmus University Trust Fund, The Netherlands Organisation for Scientific Research (ZON-MW, R.Q.H.), the Erasmus MC and the Multiple Sclerosis Society of Canada Scientific Research Foundation and the Multiple Sclerosis Society of the United Kingdom (S.V.R., G.C.E.). The GRIP study is supported by Centre for Medical Systems Biology (CMSB). The Stockholm part of the study was supported by the Bibbi and Nils Jensen Foundation, by the Swedish Research Council and by the EU project no. LSHM-CT-2005-018637, NeuroproMiSe. We are grateful to all participants and their relatives; general practitioners and neurologists for their contributions; P. Veraart for her help in genealogy; D. Lont and the personnel of the VIB Genetic Service Facility for genotyping; and P. Snijders for his help in data collection.

Author information

Authors and Affiliations



R.Q.H., C.M.v.D., G.C.E. and J.H. designed the study; I.A.H., N.J., J.H., A.D.S., G.C.E. and R.Q.H. performed collection of data; Y.S.A., I.A.H., S.V.R. and L.B. performed statistical analysis; J.D.-F., D.G., B.A.O., S.V.R., J.L., W.L., E.G. and C.V.B. coordinated the genotyping; Y.S.A., R.Q.H., C.M.v.D., I.A.H., S.V.R., G.C.E., J.H., J.D.-F. and B.A.O. wrote the manuscript.

Corresponding author

Correspondence to Rogier Q Hintzen.

Ethics declarations

Competing interests

Erasmus MC (R.Q. Hintzen) has filed a patent application on KIF1B in MS, number P85588PC00.

Supplementary information

Supplementary Text and Figures

Supplementary Methods (PDF 127 kb)

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Aulchenko, Y., Hoppenbrouwers, I., Ramagopalan, S. et al. Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis. Nat Genet 40, 1402–1403 (2008).

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing