Validation of GenProb-T1D and its clinical utility for differentiating types of diabetes in a biobank from a US healthcare system.

IF 3.2 3区医学

Journal of Diabetes Investigation Pub Date : 2024-08-22 DOI:10.1111/jdi.14297

Liana K Billings, Zhuqing Shi, Ashley J Mulford, Jun Wei, Huy Tran, Annabelle Ashworth, S Lilly Zheng, Henry M Dunnenberger, Peter J Hulick, Alan R Sanders, Jianfeng Xu

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引用次数: 0

Abstract

Atypical diabetes with overlapping clinical features of type 1 (T1D) and type 2 (T2D) is common and challenging diagnostically and for implementing effective treatment. Here, we validate a recently reported genetic probability of type 1 diabetes (GenProb-T1D) from the UK Biobank (UKB) for differentiating type 1 diabetes and type 2 diabetes in a diabetes patient cohort from a healthcare system-based biobank in the USA. Among 3,363 diabetes patients, we confirmed the performance of GenProb-T1D in differentiating typical type 1 diabetes vs type 2 diabetes. Furthermore, for 359 atypical diabetes patients, those with GenProb-T1D higher than the pre-defined cutoff derived from the UKB had clinical presentations more consistent with that of typical type 1 diabetes. Similar findings were found in participants of European and non-European ancestries. This study provides necessary validation to translate GenProb-T1D into genetic testing in a multi-ancestry cohort. Measuring underlying genetic susceptibility of type 1 diabetes and type 2 diabetes can supplement current clinical tools for earlier and more accurate diagnoses of diabetes.

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在美国医疗保健系统的生物库中验证 GenProb-T1D 及其在区分糖尿病类型方面的临床用途。

具有 1 型糖尿病（T1D）和 2 型糖尿病（T2D）重叠临床特征的非典型糖尿病很常见，在诊断和实施有效治疗方面具有挑战性。在这里，我们验证了最近报道的英国生物库（UKB）中的 1 型糖尿病遗传概率（GenProb-T1D），该概率可用于区分来自美国医疗保健系统生物库的糖尿病患者队列中的 1 型糖尿病和 2 型糖尿病。在 3,363 名糖尿病患者中，我们证实了 GenProb-T1D 在区分典型 1 型糖尿病和 2 型糖尿病方面的性能。此外，在 359 名非典型糖尿病患者中，GenProb-T1D 高于英国生物库预设临界值的患者的临床表现与典型的 1 型糖尿病更为一致。欧洲和非欧洲血统的参与者也有类似的发现。这项研究为将 GenProb-T1D 转化为多血统队列中的基因检测提供了必要的验证。测量 1 型糖尿病和 2 型糖尿病的潜在遗传易感性可以补充目前的临床工具，从而更早、更准确地诊断糖尿病。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Diabetes Investigation Medicine-Internal Medicine

自引率

9.40%

发文量

218

期刊介绍： Journal of Diabetes Investigation is your core diabetes journal from Asia; the official journal of the Asian Association for the Study of Diabetes (AASD). The journal publishes original research, country reports, commentaries, reviews, mini-reviews, case reports, letters, as well as editorials and news. Embracing clinical and experimental research in diabetes and related areas, the Journal of Diabetes Investigation includes aspects of prevention, treatment, as well as molecular aspects and pathophysiology. Translational research focused on the exchange of ideas between clinicians and researchers is also welcome. Journal of Diabetes Investigation is indexed by Science Citation Index Expanded (SCIE).