CBLB was evaluated as a candidate gene for type 1 diabetes (T1D) susceptibility based on its association with autoimmunity in animal models and its role in T-cell costimulatory signaling. Cblb is one of the two major diabetes predisposing loci in the Komeda diabetes-prone (KDP) rat. Cbl-b, a ubiquitin ligase, couples TCR-mediated stimulation with the requirement for CD28 costimulation, regulating T-cell activation. To identify variants with possible effects on gene function as well as haplotype tagging polymorphisms, the human CBLB coding region was sequenced in 16 individuals with T1D: no variants predicted to change the amino-acid sequence were identified. Seven single-nucleotide polymorphism (SNP) markers spanning the CBLB gene were genotyped in multiplex T1D families and assessed for disease association by transmission disequilibrium testing. No significant evidence of association was obtained for either individual markers or marker haplotypes.

中文翻译：

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人类1型糖尿病患者CBLB基因的多态性变异。

基于CBLB在动物模型中与自身免疫的关联及其在T细胞共刺激信号传导中的作用，它被评估为1型糖尿病（T1D）易感性候选基因。Cblb是易患Komeda糖尿病（KDP）大鼠的两个主要的糖尿病易感基因座之一。Cbl-b是一种遍在蛋白连接酶，可将TCR介导的刺激与CD28共刺激的要求相结合，从而调节T细胞活化。为了鉴定可能对基因功能以及单倍型标签多态性有影响的变体，对16位患有T1D的个体的人CBLB编码区进行了测序：未鉴定出预计会改变氨基酸序列的变体。在多重T1D家族中对跨越CBLB基因的七个单核苷酸多态性（SNP）标记进行基因分型，并通过传播不平衡测试评估疾病关联。