Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels

Genes Immun. 2007 Dec;8(8):703-6. doi: 10.1038/sj.gene.6364429. Epub 2007 Sep 13.

Abstract

The interleukin 4 promoter polymorphism -589 C/T (rs2243250) was genotyped in 869 multiple sclerosis (MS) patients and 595 healthy blood donors. Sex-specific MS association was evident whereas two flanking polymorphisms showed insignificant P values. In dual luciferase assays of cultured Jurkat cells the cloned promoter comprising the -589 T allele leads to higher expression as compared to the respective construct with the C allele. Together these findings may be discussed functionally as contributing to the genetic predisposition and to the pathogenesis in MS.

MeSH terms

  • Female
  • Gene Expression*
  • Gene Frequency
  • Genes, Reporter
  • Genetic Testing*
  • Humans
  • Interleukin-4 / genetics*
  • Luciferases / analysis
  • Luciferases / genetics
  • Male
  • Multiple Sclerosis / genetics*
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic / genetics
  • Sex Factors

Substances

  • Interleukin-4
  • Luciferases