Genetic association of CASP8 polymorphisms with primary progressive multiple sclerosis

J Neuroimmunol. 2010 May;222(1-2):70-5. doi: 10.1016/j.jneuroim.2010.03.003. Epub 2010 Apr 2.


We investigated caspase 8 (CASP8) as a candidate gene for multiple sclerosis (MS) susceptibility. Three SNPs (rs2037815, rs12990906 and rs1035140) were genotyped in 546 MS patients and 547 controls. For SNP rs2037815, GG homozygosity was associated with primary progressive multiple sclerosis (PPMS) when compared with relapse-onset MS and controls. We identified risk (GCA) and protective (ACT) haplotypes associated with PPMS when compared with relapse-onset MS and controls. GG homozygosity for SNP rs2037815 in PPMS patients was associated with a trend towards faster disease progression. These findings point to a role of CASP8 polymorphisms in the MS genetic risk in PPMS patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Caspase 8 / genetics*
  • DNA Mutational Analysis
  • Disease Progression
  • Female
  • Gene Frequency / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Haplotypes / genetics
  • Homozygote
  • Humans
  • Linkage Disequilibrium / genetics
  • Male
  • Middle Aged
  • Multiple Sclerosis, Chronic Progressive / genetics*
  • Multiple Sclerosis, Chronic Progressive / metabolism
  • Multiple Sclerosis, Chronic Progressive / physiopathology
  • Multiple Sclerosis, Relapsing-Remitting / genetics
  • Polymorphism, Single Nucleotide / genetics*
  • Severity of Illness Index


  • Genetic Markers
  • CASP8 protein, human
  • Caspase 8