Open AccessRare human leukocyte antigen genotype in two siblings with type 1 diabetes in a Japanese family clustered with type 1 diabetes
Author(s) -
Ina Yujiro,
Kawabata Yumiko,
Sakamoto Ryuichi,
Sekiguchi Naotaka,
Ikegami Hiroshi
Publication year - 2017
Publication title -
journal of diabetes investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.089
H-Index - 50
eISSN - 2040-1124
pISSN - 2040-1116
DOI - 10.1111/jdi.12628
Subject(s) - proband , medicine , type 1 diabetes , haplotype , genotype , diabetes mellitus , human leukocyte antigen , population , immunology , type 2 diabetes , antigen , genetics , biology , gene , endocrinology , mutation , environmental health
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.