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Molecular analysis of HLA class I (HLA-A and -B) and HLA class II (HLA-DRB1) genes in Japanese patients with multiple
T Ono1, M R Zambenedetti, K Yamasaki
1Department of Genetics, Medical Institute of Bioregulation, Kyushu University, Fukuoka, Japan.
Abstract:
The types of HLA-A, -B and -DRB1 genes were studied in 146 Japanese patients with multiple sclerosis (MS) using polymerase chain reaction-sequence-specific oligonucleotide probe analysis. Fifty-seven patients who displayed selective clinical involvement of the optic nerve and spinal cord were classified as having Asian type MS. The other 89 patients had disseminated central nervous system involvement and were classified as having Western type MS. The frequency of HLA-B*5101 was increased in both types of MS patients compared with controls. The frequency of HLA-DRB1*1501 was increased in Western type MS and the frequency of HLA-DRB1*0802 was increased in Asian type MS compared to controls. After correction of P values, the association of Western type MS patients with HLA-DRB1*1501 was statistically significant (Pc=0.0003) whereas other HLA alleles showed no significant association. These results suggest that HLA class I (HLA-A and -B) alleles may not contribute to a strong susceptibility to MS in Japanese compared to HLA class II (HLA-DRB1) alleles.
Insights
Human Leukocyte Antigen (HLA) gene variations were analyzed in Japanese multiple sclerosis (MS) patients. HLA-DRB1*1501 showed a significant association with Western type MS, suggesting a role for HLA class II genes in MS susceptibility.
Area of Science:
- Immunogenetics
- Neurology
- Human Genetics
Background:
- Multiple sclerosis (MS) is a demyelinating disease of the central nervous system with a complex etiology.
- Genetic factors, particularly Human Leukocyte Antigen (HLA) genes, are implicated in MS susceptibility.
- Distinct clinical phenotypes of MS exist, including Asian and Western types, potentially linked to different genetic backgrounds.
Purpose of the Study:
- To investigate the association of HLA-A, HLA-B, and HLA-DRB1 gene polymorphisms with different clinical types of MS in a Japanese population.
- To determine the relative contribution of HLA class I versus class II alleles to MS susceptibility in this cohort.
Main Methods:
- Polymerase chain reaction-sequence-specific oligonucleotide probe analysis was used to genotype HLA-A, -B, and -DRB1 alleles.
- 146 Japanese MS patients were classified into Asian type MS (57 patients) and Western type MS (89 patients) based on clinical presentation.
- Allele frequencies were compared between MS patient groups and healthy controls.
Main Results:
- The frequency of HLA-B*5101 was elevated in both Asian and Western type MS patients compared to controls.
- HLA-DRB1*1501 frequency was increased in Western type MS, and HLA-DRB1*0802 frequency was increased in Asian type MS.
- After statistical correction, only the association between Western type MS and HLA-DRB1*1501 remained significant (Pc=0.0003).
Conclusions:
- HLA class II alleles, specifically HLA-DRB1*1501, are significantly associated with Western type MS in the Japanese population.
- HLA class I alleles (HLA-A, -B) do not appear to confer strong susceptibility to MS in this cohort.
- These findings highlight the differential role of HLA class I and class II genes in MS pathogenesis across different ethnic groups and clinical phenotypes.