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17Q21.31 Sub-Haplotypes Underlying H1-associated Risk for Parkinson’s Disease and Progressive Supranuclear Palsy Converge on Altered Glial Regulation

KR Bowles, DA PughJF Crary,AM Goate

semanticscholar(2019)

Ronald M. Loeb Center for Alzheimer's disease | Department of Pathology | University of California Institute for Memory Impairments and Neurological Disorders | Pamela Sklar Division of Psychiatric Genomics Icahn Institute for Data Science and Genomic Technology | National Institute on Aging

Cited 3|Views10
Abstract
KR Bowles, DA Pugh, K Farrell, N Han, J TCW, Y Liu, SA Liang, L Qian, J Bendl, JF Fullard, AE Renton, A Casella, MA Iida, S Bandres-Ciga, Z Gan-Or, P Heutink, A Siitonen, S Bertelsen, CM Karch, SJ Frucht, BH Kopell , I Peter, YJ Park, PK Crane, JSK Kauwe, KL Boehme, GU Höglinger, PART working group, International Parkinson’s Disease Genomics Consortium (IPDGC), Progressive Supranuclear Palsy Genetics Consortium, A Charney , P Roussos, JC Wang, WW Poon, T Raj, JF Crary & AM Goate
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要点】:本文揭示了与H1关联的帕金森病和进行性核上性麻痹风险相关的亚单倍型通过改变胶质细胞调节机制产生影响,发现了遗传风险与神经胶质调控间的关联性。

方法】:研究通过全基因组关联分析和基因表达调控网络分析,探讨了特定亚单倍型对神经胶质细胞功能的影响。

实验】:研究使用了来自国际帕金森病基因组学联盟(IPDGC)和进行性核上性麻痹遗传学联盟的遗传数据,并在细胞模型中验证了关键基因的调控作用,发现了与疾病相关的基因变异对胶质细胞功能的改变。