HLA-dPB1*0501 is not uniquely associated with opticospinal multiple sclerosis in Japanese patients. Important role of DPB1*0301.

Apart from its unique lesion distribution pattern, the opticospinal form of multiple sclerosis (OSMS) is distinct among Japanese patients who satisfy the diagnostic criteria of MS. OSMS has been suggested to be strongly associated with HLA-DPB10501 in Japanese. However, association of DPB10301 with non-OSMS and lack of DPB10301 in OSMS were also reported. To verify the role of DPB10501 and DPB10301 in Japanese MS patients we determined the frequencies of these alleles in 26 patients with OSMS, 167 with non-OSMS and 156 normal subjects, who were all residents of Hokkaido, the northernmost island of Japan. All (100%) OSMS were negative for DPB10301 while 32 (19%) of the non-OSMS were positive for the allele. In DPB10301-negatives, the frequencies of DPB10501 in OSMS (85%) and non-OSMS (82%) were similar, but both were higher than in the controls (66%). In DPB10301-positives, the frequency of DPB10501 was low but similar in non-OSMS (12/32; 38%) and controls (6/14; 43%). Periventricular white matter lesions (PVL) were noted in 31 of 32 (97%) DPB10301-positive non-OSMS patients but in only 22 out of 135 (16%) DPB10301-negative non-OSMS patients and two out of 26 (8%) OSMS patients. Our findings indicate that DPB10501 plays an important role in the development of MS in general, but not in OSMS. The strong association of DPB10501 with OSMS may be due to the over-representation of the DPB10301 allele among individuals in the non-OSMS group. In addition, DPB10301 might be relevant to the development of periventricular lesions in Japanese patients with MS.