FTLD-TDP Genetics Cohort Study

Individuals of European descent with dementia clinically +/− motor neuron disease (MND) and an autopsy diagnosis of FTLD-TDP confirmed by TDP-43 IHC were included. Mixed pathologies were not excluded. Living individuals with a pathogenic GRN mutation were also included18 (link). Only a single proband per family was permitted. Appropriate informed consent was obtained. 598 unique FTLD-TDP cases met inclusion criteria; 515 were used for the GWAS after PCA matching to controls. Characteristics described in Supplementary Table 1. Whole genome amplification (WGA), performed in duplicate and pooled, was used for 15 (Repli-g Mini, Qiagen), but only 6 cases ultimately passed quality control parameters for the GWAS. The replication, using SNP genotyping, included cases of insufficient quality or quantity for the GWA phase (n=27), cases available only as formalin-fixed paraffin-embedded tissue (n=6), and cases randomly not used for GWA phase (n=56). Three FTLD-TDP cases with mutations in valosin-containing protein (VCP) gene were included (two in GWA and one in replication)18 (link).

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Van Deerlin V.M., Sleiman P.M., Martinez-Lage M., Chen-Plotkin A., Wang L.S., Graff-Radford N.R., Dickson D.W., Rademakers R., Boeve B.F., Grossman M., Arnold S.E., Mann D.M., Pickering-Brown S.M., Seelaar H., Heutink P., van Swieten J.C., Murrell J.R., Ghetti B., Spina S., Grafman J., Hodges J., Spillantini M.G., Gilman S., Lieberman A.P., Kaye J.A., Woltjer R.L., Bigio E.H., Mesulam M., al-Sarraj S., Troakes C., Rosenberg R.N., White CL I.I.I., Ferrer I., Lladó A., Neumann M., Kretzschmar H.A., Hulette C.M., Welsh-Bohmer K.A., Miller B.L., Alzualde A., de Munain A.L., McKee A.C., Gearing M., Levey A.I., Lah J.J., Hardy J., Rohrer J.D., Lashley T., Mackenzie I.R., Feldman H.H., Hamilton R.L., Dekosky S.T., van der Zee J., Kumar-Singh S., Van Broeckhoven C., Mayeux R., Vonsattel J.P., Troncoso J.C., Kril J.J., Kwok J.B., Halliday G.M., Bird T.D., Ince P.G., Shaw P.J., Cairns N.J., Morris J.C., McLean C.A., DeCarli C., Ellis W.G., Freeman S.H., Frosch M.P., Growdon J.H., Perl D.P., Sano M., Bennett D.A., Schneider J.A., Beach T.G., Reiman E.M., Woodruff B.K., Cummings J., Vinters H.V., Miller C.A., Chui H.C., Alafuzoff I., Hartikainen P., Seilhean D., Galasko D., Masliah E., Cotman C.W., Tuñón M.T., Martínez M.C., Munoz D.G., Carroll S.L., Marson D., Riederer P.F., Bogdanovic N., Schellenberg G.D., Hakonarson H., Trojanowski J.Q, & Lee V.M. (2010). Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions. Nature genetics, 42(3), 234-239.

Publication 2010

Dementia European Formalin Ftld tdp Gene Genome Gwas Motor neuron disease Mutations Paraffin Pathogenic Replication Tdp 43 Tissue Valosin containing protein

Corresponding Organization : University of Pennsylvania

Other organizations : Children's Hospital of Philadelphia, Philadelphia University, Jacksonville College, Mayo Clinic in Florida, Mayo Clinic, University of Manchester, Erasmus University Rotterdam, Vrije Universiteit Amsterdam, Indiana University – Purdue University Indianapolis, National Institute of Neurological Disorders and Stroke, Neuroscience Research Australia, University of Cambridge, University of Michigan–Ann Arbor, Oregon Health & Science University, Northwestern University, King's College Hospital, Medical Research Council, The University of Texas Southwestern Medical Center, Institut d'Investigació Biomédica de Bellvitge, Bellvitge University Hospital, Hospital Clínic de Barcelona, University Hospital of Zurich, Ludwig-Maximilians-Universität München, Duke University, Duke Medical Center, University of California, San Francisco, Biogipuzkoa Health Research Institute, Boston University, Emory University, University College London, UK Dementia Research Institute, Vancouver General Hospital, University of British Columbia, University of Pittsburgh, University of Virginia, VIB-UAntwerp Center for Molecular Neurology, Columbia University, Johns Hopkins Medicine, Johns Hopkins University, University of Sydney, UNSW Sydney, Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, University of Sheffield, Washington University in St. Louis, The Alfred Hospital, University of California, Davis, Massachusetts General Hospital, Harvard University, Icahn School of Medicine at Mount Sinai, Rush University Medical Center, Banner Health, Translational Genomics Research Institute, University of Arizona, Mayo Clinic in Arizona, Foundation for Psychocultural Research, University of California, Los Angeles, University of Southern California, Uppsala University, Kuopio University Hospital, Sorbonne Université, University of California, San Diego, University of California, Irvine, St. Michael's Hospital, University of Toronto, University of Alabama at Birmingham, University of Würzburg, Karolinska University Hospital

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Protocol cited in 9 other protocols

Variable analysis

independent variables

Individuals of European descent with dementia clinically +/− motor neuron disease (MND)

dependent variables

FTLD-TDP confirmed by TDP-43 IHC

control variables

Mixed pathologies were not excluded
Living individuals with a pathogenic GRN mutation were also included

controls

Positive control: Living individuals with a pathogenic GRN mutation
Negative control: Mixed pathologies were not excluded

Annotations

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