Hereditary factors in Takayasu disease. III. Polymorphism of human complements.

Genetic polymorphisms in C2, C4, C6, C7 and BF alleles of human complement were studied in 80 Japanese patients with Takayasu disease, and compared with those of 433 normal Japanese. Statistically significant high frequencies of C4A2 (chi 2: 27.2; p less than 0.01) and C4BQ0 allotype (chi 2: 8.7; p less than 0.01) were found in patients with Takayasu disease. Furthermore, all patients carrying C4A2 were found to be associated with C4BQ0. In addition, patients with HLA Bw52 were strongly associated with C4A2BQ0. In 5 patients homozygous C4BQ0 was found. These data suggest that some genetic factor(s) may contribute to the pathophysiological condition of Takayasu disease, which is strongly associated with the complotype of HLA Bw52-C4A2BQ0.