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

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.

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Correspondence to J T Epplen.

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Akkad, D., Arning, L., Ibrahim, S. et al. Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels. Genes Immun 8, 703–706 (2007). https://doi.org/10.1038/sj.gene.6364429

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