Complement allotyping in SLE: association with C4A null.
Immunogenetic factors are important in systemic lupus erythematosus (SLE) and deficiency of a number of complement components is often associated with a lupus-like illness. The complement components Bf, C2 and C4 are encoded within the human major histocompatibility complex (MHC) and are polymorphic. A study of HLA and Bf and C4 polymorphism in 43 patients with SLE was undertaken firstly, to determine whether partial deficiency of C2 and C4 may predispose to disease and secondly, because it may allow the better definition of important supratypes associated with the disease and which may include the relevant disease gene(s). An increased frequency of C4A null alleles has been shown in SLE, with a minimal estimated C4A null gene frequency of 0.32 versus 0.20, but no case of partial C2 deficiency was identified. These results may indicate a direct role for partial C4 deficiency or that C4A null may be a marker for an important supratype which includes the relevant disease gene(s).
D003175:Complement C2 / Q000172:deficiency; D003181:Complement C4 / Q000172:deficiency / Q000235:genetics*; D015934:Complement C4a; D015935:Complement C4b; D011416:Complement Factor D / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D006579:Heterozygote; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology*; D008297:Male
D003175:Complement C2; D003181:Complement C4; D015934:Complement C4a; D015935:Complement C4b; C493488:CFD protein, human; D011416:Complement Factor D