{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pottier C"],"funding":["U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke","NIA NIH HHS","NIDCD NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS)","NINDS NIH HHS"],"pagination":["3914"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12032271"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(1)"],"pubmed_abstract":["Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort. We confirm UNC13A as the strongest overall FTLD-TDP risk factor and identify TNIP1 as a novel FTLD-TDP risk factor. In subgroup analyzes, we further identify genome-wide significant loci specific to each of the three main FTLD-TDP pathological subtypes (A, B and C), as well as enrichment of risk loci "],"journal":["Nature communications"],"pubmed_title":["Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing."],"pmcid":["PMC12032271"],"funding_grant_id":["R01 AG077444","U01 AG057195","P30 AG062677","P01 NS084974","P01 AG019724","U54 NS092089","R01 NS085770","U24 AG021886","P30 AG072972","P30 AG066468","R01 DC010367","R01 DC008552","P30 AG010129","P30 AG072979","P30 AG013854","U19 AG063911","P30 AG012300","P50 AG005136","P30 AG062422","R21 NS094684","P01 AG003949","UG3/UH3 NS103870","P30 AG066509","R01 AG091388","R01 DC012519","UG3 NS103870","U01 AG045390","P30 AG066511","R01 AG037491","U01 AG079850","P01 AG066597"],"pubmed_authors":["Jenkins GD","Flanagan M","Suh E","Hodges JR","Neumann M","Kucukali F","Spina S","Munoz DG","Rosen HJ","Van Deerlin V","Finger EC","Onyike C","Irwin DJ","Van de Walle P","Kofler J","Castellani R","Jin LW","Zinman L","Petrucelli L","Kwok JB","Rogaeva E","Wynants S","Nana AL","Dalgard CL","Mol MO","Ghetti B","White CL","Bieniek KF","Cruchaga C","Grossman M","Uitti RJ","Glass J","Heuer H","Wilke C","Tartaglia MC","Lee EB","Forsberg L","Seeley WW","Piguet O","Lago AL","Huey ED","Whitwell JL","Herms J","Boeve BF","Weintraub S","Murray ME","Grinberg LT","De Coster W","Knopman DS","Vicente CT","Troakes C","Mead S","Arzberger T","McDonnell SK","Batzler A","Graff C","Baker M","Mackenzie IR","van Rooij JG","Beach TG","Asmann Y","Keene CD","Tempini MLG","Dickson DW","Baheti S","Farlow MR","Keith J","Rademakers R","Oijerstedt L","Ramos EM","Trojanowski JQ","Lopez OL","Mesulam MM","Graff-Radford NR","Caselli RJ","Wszolek ZK","Geier EG","van Swieten JC","Domoto-Reilly K","Synofzik M","Biernacka JM","Diehl-Schmid J","Reiman EM","Prudlo J","Josephs KA","Rohrer JD","Seelaar H","Dickerson BC","Petersen RC","Faura J","Oddi AP","Edbauer D","Roeber S","Pottier C","Ertekin-Taner N","Halliday GM","Miller BL","Sleegers K","Hsiung GR","Al-Sarraj S","Gefen T","Mao Q","Vonsattel JP","van Blitterswijk M","Haggarty SJ","Donker Kaat LL","Dugger BN","Gearing M","Honig LS","Geula C","Rissman RA","Boxer AL","Geschwind DH","Ross OA","Yokoyama JS","Serrano GE","King A","Evers BM","Woodruff BK"],"additional_accession":[]},"is_claimable":false,"name":"Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.","description":"Frontotemporal lobar degeneration with neuronal inclusions of the TAR DNA-binding protein 43 (FTLD-TDP) is a fatal neurodegenerative disorder with only a limited number of risk loci identified. We report our comprehensive genome-wide association study as part of the International FTLD-TDP Whole-Genome Sequencing Consortium, including 985 patients and 3,153 controls compiled from 26 institutions/brain banks in North America, Europe and Australia, and meta-analysis with the Dementia-seq cohort. We confirm UNC13A as the strongest overall FTLD-TDP risk factor and identify TNIP1 as a novel FTLD-TDP risk factor. In subgroup analyzes, we further identify genome-wide significant loci specific to each of the three main FTLD-TDP pathological subtypes (A, B and C), as well as enrichment of risk loci ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Apr","modification":"2026-06-01T20:10:16.652Z","creation":"2025-07-03T03:04:34.136Z"},"accession":"S-EPMC12032271","cross_references":{"pubmed":["40280976"],"doi":["10.1038/s41467-025-59216-0"]}}