Matsuura N, Ko K W, Park Y S, Elliott R
Department of Pediatrics, Kitasaro University, School of Medicine, Sagamihara, Japan.
Diabetes Res Clin Pract. 1996 Oct;34 Suppl:S117-23. doi: 10.1016/s0168-8227(96)90018-2.
HLA-DQA11 and DQB1 alleles coding for arginine (R) in position 52, and an amino acid other than aspartic acid (ND) in position 57, respectively, are strong genetic markers for IDDM in Caucasians. However, their contribution to the occurrence of the disease in Asian populations is less clear. As part of the WHO DiaMond Molecular Epidemiology Sub-Project, HLA-DQ molecular typing was performed for IDDM cases and non-diabetic controls from three populations in the Western Pacific Rim Region where incidence rates have been established (Hokkaido, Japan; Seoul, Korea; Auckland, New Zealand). DQA1R homozygosity was significantly associated with IDDM in all areas. DQB1ND homozygosity was also related to IDDM in Korea and New Zealand, but not in Japan. Individuals who were homozygous for DQA1R and DQB1ND were at highest IDDM risk in Korea and New Zealand, with the most striking findings in Auckland. In Japan, individuals carrying two DQA1R, but only one DQB1ND allele, were most likely to develop IDDM. These data revealed considerable genetic heterogeneity between Japan and Korea and suggest that DQA1R and DQB1ND alleles may explain a larger proportion of IDDM incidence in Caucasian compared to Asian populations.
分别在第52位编码精氨酸（R）和在第57位编码除天冬氨酸以外的氨基酸（ND）的HLA - DQA11和DQB1等位基因，是白种人中胰岛素依赖型糖尿病（IDDM）的强遗传标志物。然而，它们在亚洲人群中对该疾病发生的影响尚不清楚。作为世界卫生组织糖尿病分子流行病学子项目的一部分，对西太平洋沿岸地区三个已确定发病率的人群（日本北海道、韩国首尔、新西兰奥克兰）的IDDM患者和非糖尿病对照进行了HLA - DQ分子分型。在所有地区，DQA1R纯合性均与IDDM显著相关。DQB1ND纯合性在韩国和新西兰也与IDDM相关，但在日本则不然。在韩国和新西兰，DQA1R和DQB1ND均为纯合子的个体患IDDM的风险最高，在奥克兰的发现最为显著。在日本，携带两个DQA1R但只有一个DQB1ND等位基因的个体最易患IDDM。这些数据揭示了日本和韩国之间存在相当大的遗传异质性，并表明与亚洲人群相比，DQA1R和DQB1*ND等位基因在白种人中可能解释了更大比例的IDDM发病率。
