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000278068 1001_ $$00000-0002-3049-9346$$aPottier, Cyril$$b0
000278068 245__ $$aDeciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.
000278068 260__ $$a[London]$$bSpringer Nature$$c2025
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000278068 520__ $$aFrontotemporal 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 in distinct tissues, brain regions, and neuronal subtypes, suggesting distinct disease aetiologies in each of the subtypes. Rare variant analysis confirmed TBK1 and identified C3AR1, SMG8, VIPR1, RBPJL, L3MBTL1 and ANO9, as novel subtype-specific FTLD-TDP risk genes, further highlighting the role of innate and adaptive immunity and notch signaling pathway in FTLD-TDP, with potential diagnostic and novel therapeutic implications.
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000278068 650_7 $$2NLM Chemicals$$aDNA-Binding Proteins
000278068 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aProtein Serine-Threonine Kinases
000278068 650_7 $$2NLM Chemicals$$aTARDBP protein, human
000278068 650_7 $$0EC 2.7.11.1$$2NLM Chemicals$$aTBK1 protein, human
000278068 650_7 $$2NLM Chemicals$$aNerve Tissue Proteins
000278068 650_2 $$2MeSH$$aHumans
000278068 650_2 $$2MeSH$$aGenome-Wide Association Study
000278068 650_2 $$2MeSH$$aWhole Genome Sequencing
000278068 650_2 $$2MeSH$$aRisk Factors
000278068 650_2 $$2MeSH$$aGenetic Predisposition to Disease
000278068 650_2 $$2MeSH$$aMale
000278068 650_2 $$2MeSH$$aFemale
000278068 650_2 $$2MeSH$$aFrontotemporal Lobar Degeneration: genetics
000278068 650_2 $$2MeSH$$aFrontotemporal Lobar Degeneration: pathology
000278068 650_2 $$2MeSH$$aDNA-Binding Proteins: genetics
000278068 650_2 $$2MeSH$$aDNA-Binding Proteins: metabolism
000278068 650_2 $$2MeSH$$aAged
000278068 650_2 $$2MeSH$$aMiddle Aged
000278068 650_2 $$2MeSH$$aBrain: pathology
000278068 650_2 $$2MeSH$$aBrain: metabolism
000278068 650_2 $$2MeSH$$aProtein Serine-Threonine Kinases: genetics
000278068 650_2 $$2MeSH$$aCohort Studies
000278068 650_2 $$2MeSH$$aNerve Tissue Proteins: genetics
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