青少年胰岛素依赖型糖尿病的人类白细胞抗原基因型研究。

HLA genotype studies in juvenile insulin-dependent diabetes.

作者信息

Deschamps I, Lestradet H, Bonaïti C, Schmid M, Busson M, Benajam A, Marcelli-Barge A, Hors J

出版信息

Diabetologia. 1980 Sep;19(3):189-93. doi: 10.1007/BF00275267.

Abstract

HLA genotypes were ascertained in 53 French Caucasian families, comprising 68 juvenile onset insulin-dependent diabetic siblings. Among the 49 alleles detected at different loci in the HLA complex (A, C, B, Bf, DR) 4 appeared to occur at a significantly higher frequency among the 53 index cases than in a control series of 116 healthy individuals: HLA-B18 (p < 10(-3)), DRw3, DRw4 and BfF1 (p < 10(-6)). The excess of HLA identical affected siblings confirms genotype disequilibrium and supports the hypothesis of an HLA-linked gene(s) conferring susceptibility. There was no increase of homozygosity for HLA DRw3 and DRw4 whereas there was a marked excess heterozygosity for HLA DRw3/DRw4 in diabetic patients (32% versus 0% in the control series, p < 0.001). These data provide evidence for the existence of two cooperating genes, linked to each of the HLA DR alleles.

摘要

对53个法裔高加索家庭进行了HLA基因型测定，这些家庭包括68名青少年发病的胰岛素依赖型糖尿病患者的兄弟姐妹。在HLA复合体（A、C、B、Bf、DR）不同位点检测到的49个等位基因中，有4个在53例索引病例中的出现频率明显高于116名健康个体组成的对照系列：HLA - B18（p < 10⁻³）、DRw3、DRw4和BfF1（p < 10⁻⁶）。HLA相同的患病兄弟姐妹比例过高证实了基因型不平衡，并支持了存在与HLA相关的易感基因的假说。HLA DRw3和DRw4的纯合性没有增加，而糖尿病患者中HLA DRw3/DRw4的杂合性明显过高（对照系列中为0%，糖尿病患者中为32%，p < 0.001）。这些数据为存在两个与每个HLA DR等位基因相关的协同基因提供了证据。