Identification and characterization of susceptibility genes for type 1 diabetes in the major histocompatibility complex

为了阐明主要组织相容性复合体中1型糖尿病的遗传易感性，我们稳健地调查了HLA-DRB 1、DQB 1、A、B、C位点与1型糖尿病的关联。本研究表明，DRB 1 *04：05-DQB 1 *04：01和DRB 1 *08：02-DQB 1 *03：02组合在日本人群中的频率较低，但这是1型糖尿病的非常高风险组合。B、C基因座的一些等位基因与1型糖尿病相关，但大多数等位基因与疾病相关的II类等位基因之间的连锁不平衡是次要的。考虑到自身免疫性甲状腺疾病的结果，这些数据表明HLA II类和I类可能以不同的方式对每个特定靶器官的遗传易感性做出贡献。

To clarify genetic susceptibility to type 1 diabetes in the major histocompatibility complex , we robustly investigated the association of HLA-DRB1, DQB1, A, B, C loci with type 1 diabetes. This study showed that the frequency of the combination of DRB1*04:05-DQB1*04:01 and DRB1*08:02-DQB1*03:02 was low in Japanese population, but this was very high risk combination to type 1 diabetes. Several alleles of B, C loci were associated with type 1 diabetes, but most of them appeared to be secondary to linkage disequilibrium between these alleles and disease-related class II alleles. Taken the result with autoimmune thyroid disease in consideration, these data suggest that HLA Class II and Class I might contribute to the genetic susceptibility in the different manner, for each specific target organ.