MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

MENU 
  • Home
  • Meetings Archive
    • 2024 International Congress
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Tau Network Genes in a Genome Wide Association Study of Progressive Supranuclear Palsy

T. Chang (Los Angeles, CA, USA)

Meeting: 2017 International Congress

Abstract Number: 192

Keywords: Tauopathies

Session Information

Date: Monday, June 5, 2017

Session Title: Parkinsonism, MSA, PSP (Secondary and Parkinsonism-Plus)

Session Time: 1:45pm-3:15pm

Location: Exhibit Hall C

Objective: To determine how tau network genes overlap with single nucleotide polymorphisms (SNPs) associated with Progressive Supranuclear Palsy (PSP) in a Genome Wide Association Study (GWAS)1.

Background: PSP is a neurodegenerative tauopathy marked by postural instability resulting in falls, supranuclear ophthalmoparesis, and frontal lobe dysfunction. PSP genetic risk includes microtubule-associated protein tau (MAPT) and possibly genes such as Syntaxin 6 identified in a GWAS. As the genetic risks of PSP are not clearly elucidated, investigating gene networks associated with tau dysfunction could uncover specific PSP genetic risk factors.

Methods: Summary statistics from a previous PSP GWAS1 were obtained. SNPs from the PSP GWAS were associated to genes using Ensembl. Gene networks associated with tau dysfunction were developed using mRNA gene expression in mice with a highly penetrant tau mutation. mRNA was collected from mouse brain tissue. Tau networks were developed via Weighted Gene Co-expression Network Analysis. Mouse tau network genes were represented as human gene homologs. The over-representation of tau network genes among significant SNP associated genes from the GWAS was analyzed with the Fisher exact test.

Results: Twenty percent (2,327) of the genes from the mice with the highly penetrant tau mutation were determined to be involved in a tau network. Sixteen of the most significant SNPs from the GWAS (p-value less than 6.2×10-4) were associated with 10 unique genes. Of these 10 genes, 7 were tau network genes (OR 8.8 [2.0-52], p-value 0.001). The most significant SNP was associated with NSF, a gene involved in Golgi vesicle transport. NSF is on the 17q21 chromosome region. MAPT is on this region as well. NSF was a candidate gene for a GWAS of Parkinson’s disease in an Ashkenazi Jewish population. TNXB was also a significant SNP associated gene from the tau network. It is an extracellular matrix glycoprotein with anti-adhesive effects. A transcriptomic study2 associated TNXB with Alzheimer’s disease, another tauopathy.

Conclusions: Tau network genes show statistically significant over-representation among SNPs highly correlated with PSP in a GWAS. These genes, including NSF and TNXB, have been associated with Parkinson’s disease and Alzheimer’s disease.

References: 1. Cantwell, L. B. et al., with Höglinger, G. U., PSP Genetics Study Group. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat. Genet. 43, 699–705 (2011).

2. Chapuis, J. et al., Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer’s disease. Mol Psychiatry. 14(11), 1104-16 (2009).

To cite this abstract in AMA style:

T. Chang. Tau Network Genes in a Genome Wide Association Study of Progressive Supranuclear Palsy [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/tau-network-genes-in-a-genome-wide-association-study-of-progressive-supranuclear-palsy/. Accessed May 13, 2025.
  • Tweet
  • Email
  • Print

« Back to 2017 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/tau-network-genes-in-a-genome-wide-association-study-of-progressive-supranuclear-palsy/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • Covid vaccine induced parkinsonism and cognitive dysfunction
  • What is the appropriate sleep position for Parkinson's disease patients with orthostatic hypotension in the morning?
  • An Apparent Cluster of Parkinson's Disease (PD) in a Golf Community
  • The hardest symptoms that bother patients with Parkinson's disease
  • Life expectancy with and without Parkinson’s disease in the general population
  • Patients with Essential Tremor Live Longer than their Relatives
  • #23624 (not found)
  • The hardest symptoms that bother patients with Parkinson's disease
  • Three cases of early tremor in the course of Guillain-Barré Syndrome
  • The impact of gastric acid suppressants and antacids on levodopa plasma concentration in patients with Parkinson’s disease
  • To be or not to bupropion: a drug-induced parkinsonism?
  • The Role of MRI and DaTscan in Vascular Parkinsonism: A Case Report
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2025 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley