人类白细胞抗原I类A基因座影响1型糖尿病的易感性。
The HLA class I A locus affects susceptibility to type 1 diabetes.
作者信息
Noble Janelle A, Valdes Ana M, Bugawan Teodorica L, Apple Raymond J, Thomson Glenys, Erlich Henry A
机构信息
Children's Hospital, Oakland Research Institute, Oakland, CA 94609, USA.
出版信息
Hum Immunol. 2002 Aug;63(8):657-64. doi: 10.1016/s0198-8859(02)00421-4.
Human leukocyte antigen A (HLA-A) genotypes were determined for samples from 283 multiplex, Caucasian, type 1 diabetes families from the Human Biological Data Interchange (HBDI) using an immobilized probe assay. Distribution of HLA-A alleles transmitted to patients was significantly different from that in affected family-based controls (AFBAC) (p = 0.004). Transmission disequilibrium test (TDT) analysis revealed differential transmission of several HLA-A alleles from parents to affected offspring. HLA class II DRB1 and DQB1 loci were also typed, allowing assignment of HLA-A alleles to haplotypes and calculation of linkage disequilibrium values. Some of the apparent effects of HLA-A alleles on type 1 diabetes susceptibility were attributable to linkage disequilibrium with DR and DQ alleles, although others were not. The differences in frequencies between patients and controls of alleles A0101, A2402, and A*3002 could not be explained by linkage disequilibrium alone. Our results suggest an important role for class I antigens in modulating susceptibility to type 1 diabetes.
使用固定探针分析法，对来自人类生物数据交换库（HBDI）的283个多重、白种人1型糖尿病家庭的样本进行了人类白细胞抗原A（HLA-A）基因型测定。传递给患者的HLA-A等位基因分布与受影响的基于家系的对照（AFBAC）中的分布显著不同（p = 0.004）。传递不平衡检验（TDT）分析揭示了几个HLA-A等位基因从父母向受影响后代的差异传递。还对HLA II类DRB1和DQB1基因座进行了分型，从而能够将HLA-A等位基因分配到单倍型并计算连锁不平衡值。HLA-A等位基因对1型糖尿病易感性的一些明显影响可归因于与DR和DQ等位基因的连锁不平衡，尽管其他影响并非如此。等位基因A0101、A2402和A*3002在患者和对照之间的频率差异不能仅用连锁不平衡来解释。我们的结果表明I类抗原在调节1型糖尿病易感性方面具有重要作用。
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