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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1.

In Caucasians, sporadic inclusion body myositis has been associated with the MHC ancestral haplotypes; HLA-A1, B8, DR3 (8.1AH) and HLA-B35, DR1 (35.2AH). It is not known whether these haplotypes carry susceptibility for the disease in other ethnic groups. We report here the results of HLA-B and -DRB1 typing using a high-resolution sequence-based technique in a cohort of 31 Japanese patients with definite sIBM. Patient allele frequencies were 40.3% for HLA-B*5201 (10.7% in controls: p<0.001) and 37.1% for HLA-DRB1*1502 (10% in controls: p<0.001). Both alleles were found together as part of a conserved haplotype (52.1AH) at a frequency of 37.1% in patients (8.4% in controls: p<0.001). This is the first description of a haplotypic MHC association with sporadic inclusion body myositis in Japanese patients. These findings indicate that different MHC ancestral haplotypes are associated with sIBM in different ethnic groups and further emphasize the importance of genetic factors in this condition.[1]


  1. Sporadic inclusion body myositis in Japanese is associated with the MHC ancestral haplotype 52.1. Scott, A.P., Allcock, R.J., Mastaglia, F., Nishino, I., Nonaka, I., Laing, N. Neuromuscul. Disord. (2006) [Pubmed]
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