The Genetics of Multiple Sclerosis and Neuromyelitis Optica in Japan
نویسنده
چکیده
Multiple sclerosis (MS) is a chronic inflammatory disease with a substantial genetic component. Since the discovery of anti-aquaporin-4 (AQP4) antibodies, a specific biomarker for neuromyelitis optica (NMO), NMO has been classified as a distinct disease entity with a fundamentally different etiology from MS. Recent genetic studies have clarified the distinct and common genetic profiles of Japanese MS and NMO patients: HLA-DRB1*0405, HLA-DPB1*0301 and the IL-7RA rs6897932 CC genotypes were found to be MS susceptibility genes, whereas HLA-DRB1*0901, HLA-DPB1*0401 and the NOTCH4 rs422951 G alleles were found to be protective against MS. In contrast, HLA-DRB1*1602 and HLA-DPB1*0501 conferred susceptibility only to anti-AQP4 antibody-positive NMO, whereas HLA-DRB1*0901 was a common protective allele, irrespective of the presence or absence of anti-AQP4 antibody. HLA-DRB1*0405positive MS patients show a younger age at onset, slower progression, fewer brain lesions and are cerebrospinal fluid IgG abnormality-negative. The recent increase in the numbers of MS patients in this subgroup could explain the decrease in age at onset, as shown by the fourth nationwide survey of Japanese MS patients. In contrast, HLA-DRB1*0405-negative Japanese MS patients show similar trends to Caucasians in terms of associations with HLA-DRB1*1501, brain lesions fulfilling Barkhof criteria and cerebrospinal fluid IgG abnormalities. Therefore, idiopathic central nervous system demyelinating disease in Japanese can be subclassified into HLA-DRB1*0405-positive and -negative MS, and anti-AQP4 antibody-positive and -negative NMO, in terms of genetic background and clinical features.
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