Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels.
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.
Akkad
D A
DA
Department of Human Genetics, Ruhr University, Bochum, Germany.
Arning
L
L
Ibrahim
S M
SM
Epplen
J T
JT
D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D017930:Genes, Reporter; D005820:Genetic Testing; D006801:Humans; D015847:Interleukin-4 / Q000235:genetics*; D008156:Luciferases / Q000032:analysis / Q000235:genetics; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic / Q000235:genetics; D012737:Sex Factors
D015847:Interleukin-4; D008156:Luciferases