The Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Blegdamsvej 3B, DK-2200, Copenhagen N, Denmark.
Curr Diab Rep. 2020 Jul 28;20(9):43. doi: 10.1007/s11892-020-01330-y.
Diabetes is a spectrum of clinical manifestations, including latent autoimmune diabetes in adults (LADA). However, it has been questioned whether LADA exists or simply is a group of misclassified type 1 diabetes (T1D) and type 2 diabetes (T2D) patients. This review will provide an updated overview of the genetics of LADA, highlight what genetics tell us about LADA as a diabetes subtype, and point to future directions in the study of LADA.
Recent studies have verified the genetic overlap between LADA and both T1D and T2D and have contributed identification of a novel LADA-specific locus, namely, PFKFB3, and subtype-specific signatures in the HLA region. Genetic risk scores comprising T1D-risk variants have been shown to be a promising tool for discriminating diabetes subtypes and identifying patients rapidly progressing to insulin dependence. Genetic data support the existence of LADA, but further studies are needed to fully determine the place of LADA in the diabetes spectrum.
糖尿病是一系列临床表现，包括成人隐匿性自身免疫性糖尿病（LADA）。然而，人们质疑 LADA 是否存在，或者它是否只是一组分类错误的 1 型糖尿病（T1D）和 2 型糖尿病（T2D）患者。本综述将提供 LADA 遗传学的最新概述，强调遗传学告诉我们 LADA 作为一种糖尿病亚型的特征，并指出 LADA 研究的未来方向。
最近的研究证实了 LADA 与 T1D 和 T2D 之间的遗传重叠，并有助于鉴定出一个新的 LADA 特异性基因座，即 PFKFB3，以及 HLA 区域的亚型特异性特征。包含 T1D 风险变异的遗传风险评分已被证明是一种有前途的工具，可以区分糖尿病亚型，并快速识别需要胰岛素依赖的患者。遗传数据支持 LADA 的存在，但需要进一步的研究来充分确定 LADA 在糖尿病谱中的位置。
