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- W2021753419 abstract "Abstract: Previous studies of sporadic inclusion body myositis (sIBM) have shown a strong association with HLA‐DR3 and other components of the 8.1 ancestral haplotype (AH) (HLA‐A1, B8, DR3), where the susceptibility locus has been mapped to the central major histocompatibility complex (MHC) region between HLA‐DR and C4. Here, the association with HLA‐DR3 and other genes in the central MHC and class II region was further investigated in a group of 42 sIBM patients and in an ethnically similar control group ( n = 214), using single‐nucleotide polymorphisms and microsatellite screening. HLA‐DR3 (marking DRB1*0301 in Caucasians) was associated with sIBM (Fisher's test). However, among HLA‐DR3‐positive patients and controls, carriage of HLA‐DR3 without microsatellite and single‐nucleotide polymorphism alleles of the 8.1AH (HLA‐A1, B8, DRB3*0101, DRB1*0301, DQB1*0201) was marginally less common in patients. Patients showed no increase in carriage of the 18.2AH (HLA‐A30, B18, DRB3*0202, DRB1*0301, DQB1*0201) or HLA‐DR3 without the central MHC of the 8.1AH, further arguing against HLA‐DRB1 as the direct cause of susceptibility. Genes between HLA‐DRB1 and HOX12 require further investigation. BTL‐II lies in this region and is expressed in muscle. Carriage of allele 2 (exon 6) was more common in patients. BTL‐II(E6)*2 is characteristic of the 35.2AH (HLA‐A3, B35, DRB1*01) in Caucasians and HLA‐DR1, BTL‐II(E6)*2, HOX12*2, RAGE*2 was carried by several patients. The 8.1AH and 35.2AH may confer susceptibility to sIBM independently or share a critical allele." @default.
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- W2021753419 date "2004-10-20" @default.
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- W2021753419 title "Two major histocompatibility complex haplotypes influence susceptibility to sporadic inclusion body myositis: critical evaluation of an association with HLA-DR3" @default.
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- W2021753419 doi "https://doi.org/10.1111/j.1399-0039.2004.00310.x" @default.
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