On the significance of C2, C4, and factor B polymorphisms in disease.
In this review article, recent evidence is presented that some diseases like insulin-dependent diabetes mellitus, multiple sclerosis, and idiopathic membranous nephropathy, which are primarily associated with HLA-D,DR, are also related to the rare C2, C4, and Factor B alleles. Circumstantial evidence is available that at least some of these rare variants may be functionally deficient. Based on the concept of functionally interacting gene clusters, mutant complement genes may lead to impaired effector mechanisms in virus neutralization or lysis of virus-infected cells. Other mechanisms such as alteration of vascular permeability may be involved in the development of proliferative retinopathy and familial hypertension. In lepromatous lepra, an impaired cell-mediated lysis of M. leprae may be related to the hemolytically inactive C4F1 allelic product.
D001172:Arthritis, Rheumatoid / Q000235:genetics; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D003175:Complement C2 / Q000235:genetics*; D003181:Complement C4 / Q000235:genetics*; D011415:Complement Factor B / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D004792:Enzyme Precursors / Q000235:genetics*; D005796:Genes; D006680:HLA Antigens / Q000235:genetics; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007918:Leprosy / Q000235:genetics; D009103:Multiple Sclerosis / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic
D003175:Complement C2; D003181:Complement C4; D004792:Enzyme Precursors; D006680:HLA Antigens; D011415:Complement Factor B