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Association of the HLA-DRB1 alleles with characteristic MRI features of Asian multiple sclerosis
T Matsuoka1, T Matsushita, M Osoegawa
1Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Higashi-ku, Fukuoka, Japan.
Background:
In Asian patients with multiple sclerosis (MS), a paucity of brain lesions and longitudinally extensive spinal cord lesions (LESCLs) extending three or more vertebral segments are characteristic findings on magnetic resonance imaging (MRI). We aimed to disclose possible factors contributing to the development of such MRI features.
Method:
Genotyping of HLA-DRB1 and -DPB1 alleles was performed in 121 consecutive Japanese patients with clinically definite MS based on the Poser criteria and 125 healthy controls. Possible factors associated with MRI features were determined by multiple logistic analysis. Patients with MS were classified based on the presence or absence of brain lesions fulfilling the Barkhof criteria (Barkhof brain lesions) and LESCLs. Barkhof brain lesion-negative (-) patients had a markedly lower frequency of HLA-DRB1*0901 than controls (P(corr) < 0.05), whereas the frequency of DRB1*1501 was increased in the Barkhof brain lesion-positive (+) group, although this increase was not significant after correction. No Barkhof(-)LESCL(+) patients carried DRB1*0901 (P(corr) < 0.05), despite this being the most common allele in Japanese. The Barkhof(-)LESCL(-) group showed a significant increase in the frequency of DRB1*0405 compared with controls (P(corr) < 0.05). None of the DPB1 alleles were significantly different among the groups. Using multiple logistic analysis, the absence of oligoclonal bands was positively associated with an absence of Barkhof brain lesions, whereas a higher EDSS score was positively associated with the presence of LESCLs; however, the presence of anti-aquaporin-4 antibodies was not associated with either feature.
Conclusion:
The characteristic MRI features in Asians are partly related to distinct HLA-DRB1 gene alleles and an absence of oligoclonal bands.
Insights
Distinct HLA-DRB1 gene alleles and absence of oligoclonal bands are linked to characteristic magnetic resonance imaging (MRI) features in Asian patients with multiple sclerosis (MS). These findings offer insights into the genetic and immunological factors influencing MS presentation in this population.
Area of Science:
- Neuroimmunology
- Genetics
- Radiology
Background:
- Asian patients with multiple sclerosis (MS) exhibit unique magnetic resonance imaging (MRI) findings, including fewer brain lesions and more longitudinally extensive spinal cord lesions (LESCLs).
- Understanding the factors contributing to these distinct MRI features is crucial for accurate diagnosis and understanding disease mechanisms in this demographic.
Purpose of the Study:
- To investigate the association between human leukocyte antigen (HLA) gene alleles and specific MRI characteristics in Japanese patients with MS.
- To identify other potential factors, such as oligoclonal bands and anti-aquaporin-4 antibodies, associated with these MRI features.
Main Methods:
- Genotyping of HLA-DRB1 and -DPB1 alleles was performed in 121 Japanese MS patients and 125 healthy controls.
- Multiple logistic analysis was used to determine factors associated with MRI features, including Barkhof brain lesions and LESCLs.
- Patients were classified based on the presence or absence of Barkhof brain lesions and LESCLs.
Main Results:
- The HLA-DRB1*0901 allele was less frequent in MS patients without Barkhof brain lesions and absent in those without brain lesions but with LESCLs.
- An increased frequency of HLA-DRB1*0405 was observed in patients lacking both Barkhof brain lesions and LESCLs.
- Absence of oligoclonal bands correlated with the absence of Barkhof brain lesions, while higher EDSS scores correlated with the presence of LESCLs.
Conclusions:
- Distinct HLA-DRB1 gene alleles play a role in the characteristic MRI features observed in Asian MS patients.
- The absence of oligoclonal bands is also associated with specific MRI patterns in this population.
- These genetic and immunological factors contribute to the unique presentation of MS in Asian individuals.
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