Analysis of susceptibility genes in sarcoidosis

: In order to investigate immunogenetic mechanisms in the pathogenesis of sarcoidosis, sixty-three patients with sarcoidosis, who were diagnosed histologically, were tested for HLA antigens. Controls consisted of 120 healthy subjects. A lymphocyte cytotoxicity test was used for typing HLA-A, -B, -C, -DQ and -DR antigens. HLA-DP genotyping was performed by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The frequencies of HLA-DR52 and its associated antigens (HLA-DR5, -DR6 and -DR8) were significantly increased in the patients as compared to the control subjects. On the contrary, the frequencies of HLA-DR53, -DR1, and -DR4 were significantly decreased in the patients. The frequency of HLA-DPB1*0402 was significantly lower in the patients. No significant differences were observed in HLA-DQ antigens. These results suggest that HLA-DR52 associated antigens contribute to the susceptibility to sarcoidosis in Japanese.