Rare variant of complement C4 is seen in high frequency in patients with primary glomerulonephritis.
59 unselected patients with primary glomerulonephritis were phenotyped for alleles of the MHC-linked complement genes, C4A, C4B, and BF. A rare variant of the C4B locus, C4B*2.9, was found in 25% of these patients compared with only 2% of the normal population--a relative risk of 22.1 for glomerulonephritis in individuals with this variant. Subdivision of patients by histological classification of glomerulonephritis revealed a significant association of C4B*2.9 with the membranoproliferative form. There were no significant associations between primary glomerulonephritis or its subtypes and the other HLA markers tested.
D000483:Alleles; D001706:Biopsy; D003181:Complement C4 / Q000032:analysis / Q000235:genetics*; D015934:Complement C4a; D015935:Complement C4b; D014644:Genetic Variation; D005921:Glomerulonephritis / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D009402:Nephrosis, Lipoid / Q000235:genetics / Q000276:immunology / Q000473:pathology; D010641:Phenotype; D011110:Polymorphism, Genetic
D003181:Complement C4; D006680:HLA Antigens; D015934:Complement C4a; D015935:Complement C4b