不同种族背景下的 1 型糖尿病与遗传风险评分的应用。
Type 1 diabetes in diverse ancestries and the use of genetic risk scores.
机构信息
Division of Diabetes and Endocrinology, Texas Children's Hospital, Baylor College of Medicine, Houston, TX, USA.
Department of Medicine and Colorado Center for Personalized Medicine, Anschutz Medical Campus, University of Colorado, Aurora, CO, USA.
出版信息
Lancet Diabetes Endocrinol. 2022 Aug;10(8):597-608. doi: 10.1016/S2213-8587(22)00159-0. Epub 2022 Jun 17.
Over 75 genetic loci within and outside of the HLA region influence type 1 diabetes risk. Genetic risk scores (GRS), which facilitate the integration of complex genetic information, have been developed in type 1 diabetes and incorporated into models and algorithms for classification, prognosis, and prediction of disease and response to preventive and therapeutic interventions. However, the development and validation of GRS across different ancestries is still emerging, as is knowledge on type 1 diabetes genetics in populations of diverse genetic ancestries. In this Review, we provide a summary of the current evidence on the evolutionary genetic variation in type 1 diabetes and the racial and ethnic differences in type 1 diabetes epidemiology, clinical characteristics, and preclinical course. We also discuss the influence of genetics on type 1 diabetes with differences across ancestries and the development and validation of GRS in various populations.
超过 75 个位于 HLA 区域内和区域外的遗传位点影响 1 型糖尿病风险。遗传风险评分（GRS）有助于整合复杂的遗传信息，已在 1 型糖尿病中开发，并纳入分类、预后以及疾病和预防及治疗干预反应的预测模型和算法中。然而，GRS 在不同种族中的开发和验证仍在不断发展，不同遗传背景人群中的 1 型糖尿病遗传学知识也是如此。在这篇综述中，我们总结了目前关于 1 型糖尿病进化遗传变异以及 1 型糖尿病流行病学、临床特征和临床前病程中种族和民族差异的证据。我们还讨论了遗传对不同种族间 1 型糖尿病的影响，以及在不同人群中 GRS 的开发和验证。
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