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June 22, 2004; 62 (12) Brief Communications

Susceptibility and outcome in MS

Associations with polymorphisms in pigmentation-related genes

J. M. Partridge, S. J.M. Weatherby, J. A. Woolmore, D. J. Highland, A. A. Fryer, C. L.A. Mann, M. D. Boggild, W. E.R. Ollier, R. C. Strange, C. P. Hawkins
First published June 21, 2004, DOI: https://doi.org/10.1212/WNL.62.12.2323
J. M. Partridge
MRCP
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S. J.M. Weatherby
MD
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J. A. Woolmore
MRCP
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D. J. Highland
MSc
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A. A. Fryer
PhD
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C. L.A. Mann
MD
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M. D. Boggild
MD
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W. E.R. Ollier
PhD
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R. C. Strange
PhD
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C. P. Hawkins
MD
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Full PDF
Citation
Susceptibility and outcome in MS
Associations with polymorphisms in pigmentation-related genes
J. M. Partridge, S. J.M. Weatherby, J. A. Woolmore, D. J. Highland, A. A. Fryer, C. L.A. Mann, M. D. Boggild, W. E.R. Ollier, R. C. Strange, C. P. Hawkins
Neurology Jun 2004, 62 (12) 2323-2325; DOI: 10.1212/WNL.62.12.2323

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Abstract

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 February 11, 2004.
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