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Multiplex families with type 1 diabetes are important for identification of rare variants that cannot be identified in case–control association studies. The very low incidence of type 1 diabetes in the Japanese population, however, makes identification of such families difficult. We identified a Japanese family in which three members developed type 1 diabetes, and studied the genotype of the human leukocyte antigen. All three members with type 1 diabetes had the   DRB 1*08:02‐ DQB 1*03:02  haplotype, which is specific to the Asian population and strongly susceptible for type 1 diabetes. In particular, a proband and his sister had the same genotype,   DRB 1*08:02‐ DQB 1*03:02/ DRB 1*08:02‐ DQB 1*03:02 , which is extremely rare even in the Japanese population. Both parents also had   DRB 1*08:02‐ DQB 1*03:02 , but in combination with different human leukocyte antigen haplotypes. Weakly susceptible   DRB 1*13:02‐ DQB 1*06:04  was present in the affected mother, and resistant   DRB 1*15:01‐ DQB 1*06:02  in the unaffected father. These data suggest   DRB 1*08:02‐ DQB 1*03:02  to be a contributing factor for familial clustering of type 1 diabetes in this family.

Rare human leukocyte antigen genotype in two siblings with type 1 diabetes in a Japanese family clustered with type 1 diabetes