Related Experiment Videos
Factor B (BF) allotypes and multiple sclerosis in north-east England
S S Papiha1, M Duggan-Keen, D F Roberts
1Department of Human Genetics, University of Newcastle upon Tyne, UK.
Human Heredity
|January 1, 1991
Summary
Researchers found altered frequencies of complement factor B (BF) alleles in multiple sclerosis (MS) patients. Specifically, BF*F decreased while BF*F1 increased, suggesting a potential role for BF in MS pathogenesis.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Human Genetics
Background:
- The complement system plays a crucial role in immune responses and has been implicated in various autoimmune diseases.
- Genetic variations in complement factor B (BF) may influence susceptibility to or progression of neurological disorders like multiple sclerosis (MS).
- Previous studies have suggested associations between certain HLA alleles and MS, highlighting the importance of immune-related genes.
Purpose of the Study:
- To investigate the association of complement factor B (BF) alleles with multiple sclerosis (MS) in a North-East England population.
- To examine the relationship between BF alleles, Dw2 (HLA-DRB1*1501) status, and disease progression in MS patients.
Main Methods:
- Genotyping of BF alleles (BF*F, BF*F1, BF*S) in 101 clinically definite MS patients and 270 healthy controls from North-East England.
- Analysis of BF allele frequencies stratified by Dw2 (HLA-DRB1*1501) status in both patient and control groups.
- Assessment of linkage disequilibrium between BF and Dw2 alleles in patients and controls.
Main Results:
- A significant decrease in the BF*F allele and a significant increase in the BF*F1 allele were observed in MS patients compared to controls.
- In Dw2-positive individuals, the rare BF*F1 allele was significantly increased in patients versus controls.
- The common BF*S allele showed a significant increase in Dw2-positive MS patients compared to Dw2-negative MS patients, suggesting linkage disequilibrium with Dw2 in patients but not controls.
- BF*S and Dw2-positive alleles were potentially more prevalent in chronic progressive MS patients.
Conclusions:
- Specific complement factor B (BF) allele frequencies differ between multiple sclerosis patients and healthy individuals, particularly BF*F1.
- A strong linkage disequilibrium exists between BF*S and Dw2 alleles in MS patients, suggesting a combined genetic influence.
- The findings imply that BF alleles, in conjunction with Dw2 status, may influence the susceptibility or progression of multiple sclerosis.