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NEUROLOGY 2004;62:2323-2325
© 2004 American Academy of Neurology
Brief Communications

Susceptibility and outcome in MS

Associations with polymorphisms in pigmentation-related genes

J. M. Partridge, MRCP, S. J.M. Weatherby, MD, J. A. Woolmore, MRCP, D. J. Highland, MSc, A. A. Fryer, PhD, C. L.A. Mann, MD, M. D. Boggild, MD, W. E.R. Ollier, PhD, R. C. Strange, PhD and C. P. Hawkins, MD

From the Keele Multiple Sclerosis Research, Department of Neurology (Drs. J.M. Partridge, S.J.M. Weatherby, J.A. Woolmore, C.L.A. Mann and C.P. Hawkins) and Human Genomics Research Group (Drs. A.A. Fryer and R.C. Strange, and D.J. Highland), Institute of Science and Technology in Medicine, Keele University Medical School, Hartshill Campus, University Hospital of North Staffordshire Stoke on Trent, Staffordshire, Arthritis Research Campaign Unit (Dr. W.E.R. Ollier), University of Manchester, and Walton Centre for Neurology and Neurosurgery (Dr. M.D. Boggild), Liverpool, UK.

Address correspondence and reprint requests to Dr. R.C. Strange, Human Genomics Research Group, Keele University Medical School, Hartshill Campus, University Hospital of North Staffordshire, Stoke on Trent, Staffordshire, UK ST4 7LN; e-mail: r.c.strange{at}keele.ac.uk

Multiple sclerosis (MS) risk is determined by environment and genes. The authors investigated in 419 cases and 422 controls if polymorphism in the vitamin D receptor (VDR), melanocortin-1 receptor (MC1R), and tyrosinase (TYR) genes is linked with MS risk and outcome. VDR ff was associated with reduced (odds ratio [OR] = 0.59) and MC1R His294-encoding alleles with increased (OR = 2.21) risk. MC1R Glu84/Glu84 was linked with disability (OR = 5.65). These preliminary data suggest a role for these genes in MS pathogenesis.

Received July 23, 2003. Accepted in final form February 11, 2004.




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