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

Partridge, J M; Weatherby, S J M; Woolmore, J A; Highland, D J; Fryer, A A; Mann, C L A; Boggild, M D; Ollier, W E R et al. · Neurology · 2004

case_control · Level III

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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.

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