Related Experiment Video
Updated: Sep 20, 2026
Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
Published on: July 19, 2019
Myelin basic protein gene is associated with MS in DR4- and DR5-positive Italians and Russians
F R Guerini1, P Ferrante, L Losciale
1Laboratory of Biology, Don C. Gnocchi Foundation, ONLUS, IRCCS, Italy.
Background:
The myelin basic protein (MBP) gene may confer genetic susceptibility to multiple sclerosis (MS). The association of MS with alleles of the (TGGA)n variable number tandem repeat (VNTR) 5' to the MBP gene is the subject of conflicting reports.
Objective:
To study possible MS association with VNTR alleles of MBP gene in ethnic Italians and ethnic Russians.
Methods:
Two hundred sixty-nine unrelated patients with definite MS and 385 unrelated healthy control subjects from Italy and Russia were genotyped for the MBP VNTR region and for the human leukocyte antigen (HLA) class II DRB1 gene. The phenotype, allele, and genotype frequencies for two groups of MBP alleles were determined. Patients and control subjects were stratified according to HLA-DRB1 phenotypes.
Results:
The distribution of MBP alleles and genotypes in the two ethnic groups, including both MS patients and control subjects, was very similar. When MS patients and healthy control subjects were stratified according to HLA-DRB1 phenotypes, a significant association of MS with MBP alleles was found only in the DR4- and DR5-positive subgroups. A significant association with MBP alleles was also observed in the nonstratified groups, owing mainly to the contribution of the DR4- and DR5-positive individuals.
Conclusion:
Polymorphism of the MBP or another gene in its vicinity appears to contribute to the etiology of MS for the subgroups of DR4- and DR5-positive Italians and Russians.
Insights
Genetic variations in the myelin basic protein (MBP) gene are linked to multiple sclerosis (MS) risk, particularly in individuals with specific human leukocyte antigen (HLA) types.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- The myelin basic protein (MBP) gene is a candidate for conferring genetic susceptibility to multiple sclerosis (MS).
- Previous studies on the association between MS and the (TGGA)n variable number tandem repeat (VNTR) alleles 5' to the MBP gene have yielded conflicting results.
Purpose of the Study:
- To investigate the association between VNTR alleles of the MBP gene and MS in ethnic Italian and Russian populations.
- To explore potential interactions between MBP gene polymorphism and human leukocyte antigen (HLA) class II DRB1 phenotypes in MS etiology.
Main Methods:
- Genotyping of the MBP VNTR region and HLA class II DRB1 gene in 269 unrelated MS patients and 385 unrelated healthy controls from Italy and Russia.
- Analysis of MBP allele and genotype frequencies, with stratification based on HLA-DRB1 phenotypes.
Main Results:
- MBP allele and genotype distributions were similar between ethnic groups and between MS patients and controls overall.
- A significant association between MS and MBP alleles was identified specifically within HLA-DR4 and HLA-DR5 positive subgroups.
- This association was primarily driven by individuals positive for HLA-DR4 and HLA-DR5.
Conclusions:
- Polymorphisms within or near the MBP gene contribute to the etiology of MS.
- The genetic contribution of MBP is particularly relevant for Italian and Russian individuals carrying HLA-DR4 and HLA-DR5 phenotypes.
