AIRR 数据共享区中的 1 型糖尿病 T 细胞受体和 B 细胞受体资料库:通过 1 型糖尿病 AIRR 联合会访问、使用和贡献的实用指南。

IF 8.4 1区 医学 Q1 ENDOCRINOLOGY & METABOLISM Diabetologia Pub Date : 2024-10-29 DOI:10.1007/s00125-024-06298-y
Stephanie J Hanna, Rachel H Bonami, Brian Corrie, Monica Westley, Amanda L Posgai, Eline T Luning Prak, Felix Breden, Aaron W Michels, Todd M Brusko
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引用次数: 0

摘要

人类分子遗传学使人们对组织特异性自身免疫疾病(包括 1 型糖尿病)的发病风险变异有了惊人的了解。1 型糖尿病所特有的细胞介导的免疫破坏与 HLA II 类基因位点所带来的风险密切相关,同时还与影响胰岛内驻留的 beta 细胞以及免疫细胞的功能、表型和向组织的迁移的大量其他候选基因有关。除了研究得很清楚的种系 SNP 变异外,T 细胞受体 (TCR) 和 B 细胞受体 (BCR) 基因也有重要作用,它们经过体细胞重组产生了适应性免疫受体汇辑 (AIRR),导致了 1 型糖尿病的自身免疫。因此,我们创建了 T1D TCR/BCR 资源库(1 型糖尿病 T 细胞受体和 B 细胞受体资源库),以研究这些高度可变和动态的基因重排。除了处理过的 TCR 和 BCR 序列外,T1D TCR/BCR 资源库还包括详细的元数据(如参与者人口统计数据、疾病相关参数和组织类型)。我们介绍了 1 型糖尿病 AIRR 联合会的目标,并概述了使用和将数据存入这个综合资料库的方法。我们的最终目标是促进研究界访问丰富的、经过仔细注释的免疫 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索和深入了解。
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The Type 1 Diabetes T Cell Receptor and B Cell Receptor Repository in the AIRR Data Commons: a practical guide for access, use and contributions through the Type 1 Diabetes AIRR Consortium.

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.

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来源期刊
Diabetologia
Diabetologia 医学-内分泌学与代谢
CiteScore
18.10
自引率
2.40%
发文量
193
审稿时长
1 months
期刊介绍: Diabetologia, the authoritative journal dedicated to diabetes research, holds high visibility through society membership, libraries, and social media. As the official journal of the European Association for the Study of Diabetes, it is ranked in the top quartile of the 2019 JCR Impact Factors in the Endocrinology & Metabolism category. The journal boasts dedicated and expert editorial teams committed to supporting authors throughout the peer review process.
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