Related Experiment Video
Updated: Jul 11, 2026
08:47
Induction of Experimental Autoimmune Encephalomyelitis in Mice and Evaluation of the Disease-dependent Distribution of Immune Cells in Various Tissues
Published on: May 8, 2016
Sex specifically associated promoter polymorphism in multiple sclerosis affects interleukin 4 expression levels
D A Akkad1, L Arning, S M Ibrahim
1Department of Human Genetics, Ruhr University, Bochum, Germany.
Genes and Immunity
|September 15, 2007
Summary
The interleukin 4 promoter T allele (-589 C/T) is linked to multiple sclerosis (MS) risk. This genetic variation increases gene expression, potentially contributing to MS pathogenesis.
Area of Science:
- Immunogenetics
- Neuroimmunology
Background:
- Multiple sclerosis (MS) is a complex neurological disorder with a significant genetic component.
- Interleukin 4 (IL-4) plays a crucial role in immune regulation and has been implicated in autoimmune diseases.
Purpose of the Study:
- To investigate the association between the interleukin 4 promoter polymorphism -589 C/T (rs2243250) and multiple sclerosis risk.
- To explore the functional impact of this polymorphism on IL-4 gene expression.
Main Methods:
- Genotyping of the IL-4 -589 C/T polymorphism in 869 MS patients and 595 healthy controls.
- Dual luciferase assays were performed using Jurkat cells transfected with constructs containing either the C or T allele of the IL-4 promoter.
Main Results:
- A significant sex-specific association was observed between the IL-4 -589 C/T polymorphism and MS.
- The T allele of the IL-4 promoter resulted in higher gene expression compared to the C allele in luciferase assays.
- Two flanking polymorphisms showed no significant association with MS.
Conclusions:
- The IL-4 -589 C/T polymorphism is associated with genetic predisposition to multiple sclerosis.
- The increased IL-4 expression driven by the T allele may contribute to the pathogenesis of MS.
Related Concept Videos
01:24T Cell Types and Functions
When T cells with CD4 markers are activated, they give rise to two types of effector cells: helper T cells and regulatory T cells. Meanwhile, T cells with CD8 markers differentiate into effector cytotoxic T cells. The differentiation of CD4 T cells into helper T cell subsets, such as Th1, Th2, and Th17 cells, is dependent on the antigen type, antigen-presenting cell, and regulatory cytokines.
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
Th1 cells stimulate dendritic cells to express necessary co-stimulatory molecules on their surfaces for...
01:19Multiple Sclerosis l: Introduction
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...