Awata T, Kanazawa Y
Department of Pathology, University of Massachusetts Medical Center, Worcester.
Diabetes Res Clin Pract. 1994 Oct;24 Suppl:S83-7. doi: 10.1016/0168-8227(94)90232-1.
Although the HLA class II genes are clearly associated with insulin-dependent diabetes mellitus (IDDM) in all ethnic groups, considerable variation in the associated haplotypes is observed among the ethnic groups. In Japanese, DRB10405-DQA10301-DQB10401, DRB10901-DQA10301-DQB10303 and DRB10802-DQA10301-DQB10302 are the major susceptibility haplotypes to IDDM, while DRB11501-DQA10102-DQB10602 and DRB11502-DQA10103-DQB1*0601 are the major resistance haplotypes. The hypothesis that alleles encoding amino acids other than aspartic acid at the DQB1 position 57 contribute to IDDM susceptibility is not applicable to the Japanese, mainly because the first and second susceptibility haplotypes listed above have aspartic acid at DQB1 position 57. In the 5' insulin gene polymorphism, the shorter insertion (class 1 allele) is predominant, and is not associated with diabetes in Japanese. Subdivision of the class 1 alleles also failed to show an association with IDDM in Japanese. The insulin gene region appeared to be of less value as a genetic marker for IDDM in Japanese. Little is known about other genetic markers.
尽管在所有种族群体中，HLA II类基因都与胰岛素依赖型糖尿病（IDDM）明显相关，但不同种族群体中观察到的相关单倍型存在相当大的差异。在日本人中，DRB10405 - DQA10301 - DQB10401、DRB10901 - DQA10301 - DQB10303和DRB10802 - DQA10301 - DQB10302是IDDM的主要易感单倍型，而DRB11501 - DQA10102 - DQB10602和DRB11502 - DQA10103 - DQB1*0601是主要的抗性单倍型。关于DQB1第57位编码除天冬氨酸以外氨基酸的等位基因导致IDDM易感性的假说不适用于日本人，主要是因为上述列出的前两个易感单倍型在DQB1第57位有天冬氨酸。在5'胰岛素基因多态性中，较短的插入片段（1类等位基因）占主导地位，并且在日本人中与糖尿病无关。对1类等位基因进行细分也未能显示出与日本人的IDDM有关联。在日本人中，胰岛素基因区域作为IDDM的遗传标记似乎价值较小。关于其他遗传标记知之甚少。
