Major, histocompatibility complex (MHC) complement deficiency, ancestral haplotypes and systemic lupus erythematosus (SLE) : C4 deficiency explains some but not all of the influence of the MHC

摘要: In 1982 we reported that among Caucasians with systemic lupus erythematosus (SLE) there is an increased frequency of C4A null. As this allele occurs on the HLA-A1,B8,BfS, C4AQO,B1,DR3 (8.1) supratype, suggested accounted for association B8 and DR3. Since then have shown many supratypes including 8.1 identify unique segments DNA conserved from a common but remote ancestor. Many these ancestral haplotypes (AH), 8.1, carry disease genes some bear C4 We therefore tested hypothesis in SLE null alleles are directly involved by examining (1) whether all or only AH bearing increased, (2) racial groups examined, (3) associated presence antinuclear antibodies (ANA) absence SLE. performed HLA complement allotyping 62 Australian 9 aborigines 10 out 133 healthy individuals 7 more international units ANA. Our data confirm (gene 0.30 versus 0.15 controls) show C4B 0.33 0.22). A review extensive literature shows and/or examined. On other hand, HLA-A3,B7,BfS,C4A3,B1,DR2 (7.1) rather than ANA health. indicate while nulls contribute to MHC susceptibility, likely be involved.