TNFRSF13C/BAFFR P21R and H159Y polymorphisms in multiple sclerosis
Panagiotis Ntellas1, Efthimios Dardiotis2, Eirini Sevdali1
1Department of Immunology & Histocompatibility, Faculty of Medicine, School of Health Sciences, University of Thessaly, Larissa, Greece.
Multiple Sclerosis and Related Disorders
|March 17, 2020
Summary
Genetic variations in the B-cell activating factor receptor (BAFFR) may influence multiple sclerosis (MS) development. The H159Y polymorphism in BAFFR was more common in MS patients, suggesting a role in disease pathogenesis.
Area of Science:
- Immunology
- Neuroimmunology
- Genetics
Background:
- B cells play a role in multiple sclerosis (MS) pathogenesis.
- B-cell activating factor (BAFF) and its receptor (BAFFR) are critical for B cell survival.
- Two common polymorphisms in the TNFRSF13C gene encoding BAFFR, P21R and H159Y, may impact BAFFR signaling.
Purpose of the Study:
- To investigate the association between TNFRSF13C/BAFFR polymorphisms and MS.
- To evaluate the potential contribution of BAFFR to MS pathogenesis and clinical phenotype.
Main Methods:
- Genotyping of TNFRSF13C/BAFFR polymorphisms (P21R and H159Y) in 486 MS patients.
- Analysis of polymorphism prevalence in relation to MS disease severity, disability, onset age, and duration.
- Comparison of allele frequencies with controls from the Exome Aggregation Consortium (ExAC) Browser.
Main Results:
- A higher prevalence of the H159Y polymorphism was observed in MS patients compared to controls.
- This finding suggests a potential link between enhanced BAFFR signaling and MS pathogenesis.
Conclusions:
- The H159Y polymorphism in BAFFR may contribute to the pathogenesis of multiple sclerosis.
- Further research is warranted to elucidate the precise role of BAFFR signaling in MS.
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