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Polymorphisms in the genes encoding interferon-gamma and interferon-gamma receptors in multiple sclerosis
H M Schrijver1, T Hooper-van Veen, M J van Belzen
1Department of Neurology, University Medical Center Utrecht, The Netherlands. hm.schrijver@vumc.nl
Summary
Investigating genetic variations in interferon-gamma (IFN-gamma) and its receptors (IFNGR1, IFNGR2) did not reveal links to multiple sclerosis (MS) susceptibility. However, the IFNGR2 Arg64 allele may be associated with a progressive MS onset.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Genetics of Neurological Disorders
Background:
- Multiple sclerosis (MS) susceptibility is influenced by multiple genes with small effects.
- Interferon-gamma (IFN-gamma), a pro-inflammatory cytokine, may impact MS progression.
- Polymorphisms in IFN-gamma receptor 1 (IFNGR1) and IFN-gamma receptor 2 (IFNGR2) genes have not been extensively studied in MS.
Purpose of the Study:
- To examine the association between polymorphisms in the IFNG, IFNGR1, and IFNGR2 genes and susceptibility to MS.
- To investigate if these gene polymorphisms correlate with clinical and imaging-defined disease characteristics in MS patients.
Main Methods:
- Genotyping for IFNG, IFNGR1, and IFNGR2 was performed in 509 MS patients and 193 healthy controls.
- Clinical data including disease course, age at onset, and progression rate were collected.
- Serial magnetic resonance imaging (MRI) data were analyzed for 107 patients.
Main Results:
- No significant differences in genotype or allele frequencies were found between MS patients and controls for IFNG, IFNGR1, and IFNGR2.
- A progressive MS onset was more frequent in carriers of the IFNGR2 allele Arg64 (P = 0.028).
- IFNGR2 Arg64 allele carriers exhibited a lower black hole ratio on MRI (P = 0.016).
Conclusions:
- The studied IFNG intron 1 polymorphism is unlikely to significantly impact MS susceptibility or disease course.
- IFNGR1 and IFNGR2 polymorphisms do not appear to strongly influence MS susceptibility.
- The IFNGR2*Arg64 allele may be associated with a progressive MS onset and specific MRI findings.