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Neurology. 2004 Jun 22;62(12):2323-5.

Susceptibility and outcome in MS: associations with polymorphisms in pigmentation-related genes.

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Keele Multiple Sclerosis Research, Department of Neurology, Institute of Science and Technology in Medicine, Keele University Medical School, Hartshill Campus, University Hospital of North Staffordshire Stoke on Trent, Staffordshire, 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.

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