{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pottier C"],"funding":["Consortium for Frontotemporal dementia","German Research Foundation","Telethon Foundation","Gamla Tjänarinnor","NIA NIH HHS","Texas Tech University Health Sciences Center","AIRAlzh onlus – ANCC-COOP","National Institutes of Health","The Tau Consortium and the Consortium for Frontotemporal Dementia Resesarch","National Institute on Aging","Harry T Mangurian Jr Lewy Body Dementia Program","Ministry of Health, Medical University of Gdansk","NIDCD NIH HHS","Brain Foundation Sweden","National Institute for Health Research (NIHR)","McCune Foundation","NINDS NIH HHS","Fondazione Cassa di Risparmio di Firenze","Novo Nordisk Fonden","Stohnes Foundation","NHMRC","Memorabel 2013 Presympt FTD","PHRC FTLDexome","NIHR Queen Square Dementia Biomedical Research Unit","Lundbeck Foundation","Else Kröner Fresenius Stiftung","NINDS","Investissements d&apos;avenir","MRC Centre on Parkinson&apos;s","Arizona Biomedical Research Commission","Alzheimer Foundation Sweden","Ministry of Health Finalizzata","Nomis Foundation","Bluefield Project to Cure FTD","Medical Research Council","LC Campbell Foundation","JPND RiMod","Australian Research Council Centre of Excellence in Cognition and its Disorders","University of Pittsburgh Brain Institute","Wellcome Trust","Stockholm County Council","Carl B and Florence E King Foundation","Italian Ministry of Health","Swedish Brain Power","Wolfson Foundation","German Helmholtz Association","Swedish FTD Initiative","Swedish Research Council","Alzheimer&apos;s Society","Department of Veterans Affairs","Australian National Health and Medical Research Council","Little Family Foundation","MRC Clinician Scientist","Alzheimer&apos;s Research UK","Winspear Family Center for Research on the Neuropathology of Alzheimer Disease","Fundació Marató de TV3, Barcelona, Spain","Brain Research Trust","Arizona Department of Health Services","NIHR Rare Disease Translational Research","Sydney Research Excellence Initiative","BLRD VA","GHR Foundation","NIH/National Institute of Neurological Disorders and Stroke","Mayo Clinic Dorothy","Alzheimer Nederland","NeuroSleep Centre of Research Excellence","Leonard Wolfson Experimental Neurology Centre Clinical Research Facility","National Institute on Deafness and Other Communication Disorders","Canadian Consortium on Neurodegeneration in Aging","German Federal Ministry of Education and Research","National Health and Medical Research Council of Australia","Sun Health Foundation","Michael J Fox Foundation for Parkinson&apos;s Research","Mayo Clinic Foundation","Karolinska Institutet","Alzheimer's Society","NIHR UCLH Biomedical Research Centre","Dementia Foundation Sweden"],"pagination":["548-558"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6237181"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17(6)"],"pubmed_abstract":["<h4>Background</h4>Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers.<h4>Methods</h4>The study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data. In the discovery stage, genome-wide logistic and linear regression analyses were done to test the association of genetic variants with disease risk (case or control status) and age at onset in patients with a GRN mutat"],"journal":["The Lancet. Neurology"],"pubmed_title":["Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study."],"pmcid":["PMC6237181"],"funding_grant_id":["CL-2012-18-010","RO1 AG041797","U54 NS092089","U01 AG046139","WE.15-2014-08","FTLDc O1GI1007A","P30 AG019610","R01 AG051848","NNF16OC0020984","UO1 AG006786","137794","20143810","P30 AG10124","P50 AG008702","P30 AG010124","CE110001021","R248-2017-431","P30 AG012300","NNF11OC1014514","2015-02926","630434","1079679","P30 AG062429","284","RF1 AG053303","R01 AG050603","1037746","1037747","MR/L016397/1","0011","R01 AG037491","I01 BX003040","R21 AG051839","R01 NS080820","211002","BRC149/NS/MH","P01 AG003991","MC_UU_00024/1","RF1 AG044546","P30 AG010133","MR/J009482/1","P01 NS084974","P01 AG019724","U01 AG006786","P50 AG005681","P30 NS055077","P01 AG017586","R35 NS097261","1060992","U24 NS072026","U24 AG021886","R01 AG044546","R01 AG041797","P50 AG08702","P50 AG023501","05-901","R01 DC008552","P30 AG013854","APP1103258","1001 (TGB)","MR/M023664/1","529-2014-7504","R90-2011-7723","733051024","4001","P50 AG025688","P50 NS072187","P50 AG005131","RF AG051504","1062539","NF-SI-0617-10175","RF1 AG051504","P50 AG005133","R248-2016-2518","1095127","R01 NS076837","U24 NS095871","ANR-10-IAIHU-06","P50 AG016574","MR/M008525/1","521-2010-3134","G0701441","U01 AG045390","P01 AG026276","70-73305-98-105"],"pubmed_authors":["Antonell A","Rossi G","Jenkins GD","Suh E","Brooks WS","Bagnoli S","Llado A","Hodges JR","Neumann M","Spina S","Finger EC","Irwin DJ","Ghidoni R","Kofler J","Borroni B","Finch NA","Fumagalli GG","Petrucelli L","Kwok JB","Rogaeva E","Gallo M","Ghetti B","White CL","Grafman J","Bieniek KF","Cruchaga C","Anfossi M","Christopher E","Grossman M","Padovani A","Glass J","Wilke C","van Rooij JGJ","Maletta R","Lee EB","Seeley WW","Scarpini E","Oblak A","Cairns NJ","Moreno F","Van Deerlin VM","Ren Y","Piguet O","Nacmias B","Murell JR","Pasquier F","Huey ED","Benussi L","Richardson A","Ferrari C","Momeni P","Slawek J","Boeve BF","Weintraub S","Frangipane F","Murray ME","Grinberg LT","Knopman DS","Black SE","Troakes C","Mead S","Zhou X","Sitek E","Graff C","Zulaica M","Baker M","Parsons TM","Mann D","Beach TG","Galimberti D","Dickson DW","Hannequin D","Pickering-Brown S","Rademakers R","Lopez OL","Trojanowski JQ","Oijerstedt L","Mesulam MM","Le Ber I","Graff-Radford NR","Perkerson RB","Caselli RJ","Wszolek ZK","van Swieten JC","Synofzik M","Biernacka JM","Reiman EM","Diehl-Schmid J","Serie DJ","Rollinson S","Lopez de Munain A","Josephs KA","Ferrari R","Rohrer JD","Heutink P","Wong TH","Nielsen JE","DeJesus-Hernandez M","Seelaar H","Masellis M","Petersen RC","Snowden J","Sorbi S","Kjolby M","Pottier C","Bruni AC","Ertekin-Taner N","Halliday GM","Miller BL","Hsiung GR","Winkelmann J","Al-Sarraj S","Hardy J","Piaceri I","Bigio EH","Vonsattel JP","van Blitterswijk M","Karydas AM","Nykjaer A","Parisi JE","Gearing M","Tagliavini F","Honig LS","Johannsen P","Geula C","Rissman RA","Boxer AL","Noel Sabbagh M","Lippa CF","Mackenzie IRA","Binetti G","Evers BM","Sanchez-Valle R"],"additional_accession":[]},"is_claimable":false,"name":"Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.","description":"<h4>Background</h4>Loss-of-function mutations in GRN cause frontotemporal lobar degeneration (FTLD). Patients with GRN mutations present with a uniform subtype of TAR DNA-binding protein 43 (TDP-43) pathology at autopsy (FTLD-TDP type A); however, age at onset and clinical presentation are variable, even within families. We aimed to identify potential genetic modifiers of disease onset and disease risk in GRN mutation carriers.<h4>Methods</h4>The study was done in three stages: a discovery stage, a replication stage, and a meta-analysis of the discovery and replication data. In the discovery stage, genome-wide logistic and linear regression analyses were done to test the association of genetic variants with disease risk (case or control status) and age at onset in patients with a GRN mutat","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Jun","modification":"2026-05-06T05:36:56.642Z","creation":"2026-04-07T22:12:29.833Z"},"accession":"S-EPMC6237181","cross_references":{"pubmed":["29724592"],"doi":["10.1016/s1474-4422(18)30126-1","10.1016/S1474-4422(18)30126-1"]}}