Human molecular genetics has brought incredible insights into the variants that confer risk for the development of tissue-specific autoimmune diseases, including type 1 diabetes. The hallmark cell-mediated immune destruction that is characteristic of type 1 diabetes is closely linked with risk conferred by the HLA class II gene locus, in combination with a broad array of additional candidate genes influencing islet-resident beta cells within the pancreas, as well as function, phenotype and trafficking of immune cells to tissues. In addition to the well-studied germline SNP variants, there are critical contributions conferred by T cell receptor (TCR) and B cell receptor (BCR) genes that undergo somatic recombination to yield the Adaptive Immune Receptor Repertoire (AIRR) responsible for autoimmunity in type 1 diabetes. We therefore created the T1D TCR/BCR Repository (The Type 1 Diabetes T Cell Receptor and B Cell Receptor Repository) to study these highly variable and dynamic gene rearrangements. In addition to processed TCR and BCR sequences, the T1D TCR/BCR Repository includes detailed metadata (e.g. participant demographics, disease-associated parameters and tissue type). We introduce the Type 1 Diabetes AIRR Consortium goals and outline methods to use and deposit data to this comprehensive repository. Our ultimate goal is to facilitate research community access to rich, carefully annotated immune AIRR datasets to enable new scientific inquiry and insight into the natural history and pathogenesis of type 1 diabetes.

Graphical Abstract

中文翻译：

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AIRR Data Commons 中的 1 型糖尿病 T 细胞受体和 B 细胞受体存储库：通过 1 型糖尿病 AIRR 联盟访问、使用和贡献的实用指南

人类分子遗传学为赋予组织特异性自身免疫性疾病（包括 1 型糖尿病）发展风险的变异带来了令人难以置信的见解。1 型糖尿病的特征性标志性细胞介导的免疫破坏与 HLA II 类基因位点赋予的风险密切相关，再加上影响胰腺内胰岛驻留 β 细胞以及免疫细胞的功能、表型和向组织运输的广泛其他候选基因。除了经过充分研究的种系 SNP 变体外，T 细胞受体 （TCR） 和 B 细胞受体 （BCR） 基因也做出了关键贡献，它们经过体细胞重组以产生负责 1 型糖尿病自身免疫的适应性免疫受体库 （AIRR）。因此，我们创建了 T1D TCR/BCR 存储库 （1 型糖尿病 T 细胞受体和 B 细胞受体存储库） 来研究这些高度可变和动态的基因重排。除了处理的 TCR 和 BCR 序列外，T1D TCR/BCR 存储库还包括详细的元数据（例如参与者人口统计学、疾病相关参数和组织类型）。我们介绍了 1 型糖尿病 AIRR 联盟的目标，并概述了使用和存入数据到这个综合存储库的方法。我们的最终目标是促进研究界访问丰富、仔细注释的免疫 AIRR 数据集，以便对 1 型糖尿病的自然史和发病机制进行新的科学探究和洞察。

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