Müller Ulrich, Höglinger Günter, Dickson Dennis W
Institute of Human Genetics, Justus-Liebig-University, Schlangenzahl 14, 35392, Giessen, Germany.
Center for Human Genetics, MVZ diagnosticum, Altenhöferallee 3, 60438, Frankfurt, Germany.
Acta Neuropathol. 2025 Jun 4;149(1):58. doi: 10.1007/s00401-025-02898-z.
Progressive supranuclear palsy (PSP) is mainly a sporadic disease. It has a multifactorial etiology and an interaction between environmental and genetic factors causes disease. While elucidation of environmental risks for PSP is still in its infancy, much has been learned about the genetic etiological component of PSP during the past few years. This article reviews genes that convey risk for PSP. All genes have been identified in association studies. Only those genes with the standard threshold for genome-wide significance of P < 5E-8 are covered. These genes include MAPT, KANSL1, PLEKHM1, STX6, MOBP, EIF2AK3, SLC01 A2, DUSP10, APOE, RUNX2, TRIM11, NFASC/CNTN2 and LRRK2. The physiologic function of these genes is described and their potential role in the etiology of PSP is discussed.
进行性核上性麻痹（PSP）主要是一种散发性疾病。其病因是多因素的，环境因素与遗传因素相互作用导致发病。虽然对PSP环境风险的阐明仍处于起步阶段，但在过去几年中，人们对PSP的遗传病因成分已经有了很多了解。本文综述了与PSP风险相关的基因。所有基因均在关联研究中被鉴定出来。仅涵盖那些达到全基因组显著性标准阈值P < 5E-8的基因。这些基因包括MAPT、KANSL1、PLEKHM1、STX6、MOBP、EIF2AK3、SLC01A2、DUSP10、APOE、RUNX2、TRIM11、NFASC/CNTN2和LRRK2。文中描述了这些基因的生理功能，并讨论了它们在PSP病因学中的潜在作用。
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