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

Neurology. 2004 Jun 22;62(12):2323-5. doi: 10.1212/wnl.62.12.2323.

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.

MeSH terms

  • Adult
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Male
  • Monophenol Monooxygenase / genetics*
  • Multiple Sclerosis / genetics*
  • Polymorphism, Genetic
  • Receptor, Melanocortin, Type 1 / genetics*
  • Receptors, Calcitriol / genetics*

Substances

  • Receptor, Melanocortin, Type 1
  • Receptors, Calcitriol
  • Monophenol Monooxygenase