2024
Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease
Xicota L, Cosentino S, Vardarajan B, Mayeux R, Perls T, Andersen S, Zmuda J, Thyagarajan B, Yashin A, Wojczynski M, Krinsky‐McHale S, Handen B, Christian B, Head E, Mapstone M, Schupf N, Lee J, Barral S, Study T, Abner E, Adams P, Aguirre A, Albert M, Albin R, Allen M, Alvarez L, Andrews H, Apostolova L, Arnold S, Asthana S, Atwood C, Ayres G, Barber R, Barnes L, Barral S, Bartlett J, Beach T, Becker J, Beecham G, Benchek P, Bennett D, Bertelson J, Biber S, Bird T, Blacker D, Boeve B, Bowen J, Boxer A, Brewer J, Burke J, Burns J, Bush W, Buxbaum J, Byrd G, Cantwell L, Cao C, Carlsson C, Carrasquillo M, Chan K, Chasse S, Chen Y, Chesselet M, Chin N, Chui H, Chung J, Craft S, Crane P, Cranney M, Cruchaga C, Cuccaro M, Culhane J, Cullum C, Darby E, Davis B, De Jager P, DeCarli C, DeToledo J, Dickson D, Dobbins N, Duara R, Ertekin‐Taner N, Evans D, Faber K, Fairchild T, Fallin D, Fallon K, Fardo D, Farlow M, Farrell J, Farrer L, Fernandez‐Hernandez V, Foroud T, Frosch M, Galasko D, Gamboa A, Gauthreaux K, Gefen T, Geschwind D, Ghetti B, Gilbert J, Goate A, Grabowski T, Graff‐Radford N, Griswold A, Haines J, Hakonarson H, Hall K, Hall J, Hamilton R, Hamilton‐Nelson K, Han X, Harari O, Hardy J, Harrell L, Head E, Henderson V, Hernandez M, Honig L, Huebinger R, Huentelman M, Hulette C, Hyman B, Hynan L, Ibanez L, Jarvik G, Jayadev S, Jin L, Johnson K, Johnson L, Jones B, Jun G, Kamboh M, Kang M, Karydas A, Katz M, Kauwe J, Kaye J, Keene C, Keller B, Khaleeq A, Kim R, Knebl J, Kowall N, Kramer J, Kukull W, Kunkle B, Kuzma A, LaFerla F, Lah J, Larson E, Lerch M, Lerner A, Leung Y, Leverenz J, Levey A, Lieberman A, Lipton R, Lopez O, Lunetta K, Lyketsos C, Mains D, Manly J, Mark L, Marquez D, Marson D, Martin E, Masliah E, Massman P, Masurkar A, Mayeux R, McCormick W, McCurry S, McDonough S, McKee A, Mesulam M, Mez J, Miller B, Miller C, Mock C, Moghekar A, Montine T, Monuki E, Mooney S, Morris J, Mukherjee S, Myers A, Naj A, Nguyen T, Noble J, Nudelman K, O'Bryant S, Ormsby K, Ory M, Palmer R, Parisi J, Paulson H, Pavlik V, Paydarfar D, Perez V, Pericak‐Vance M, Petersen R, Polk M, Qu L, Quiceno M, Quinn J, Raj A, Rajabli F, Ramanan V, Reiman E, Reisch J, Reitz C, Ringman J, Roberson E, Rodriguear M, Rogaeva E, Rosen H, Rosenberg R, Royall D, Sano M, Saykin A, Schellenberg G, Schneider J, Schneider L, Seeley W, Sherva R, Shibata D, Small S, Smith A, Smith J, Song Y, Spina S, St George‐Hyslop P, Stern R, Stevens A, Strittmatter S, Sultzer D, Swerdlow R, Teich A, Tilson J, Tosto G, Trojanowski J, Troncoso J, Tsuang D, Valladares O, Van Deerlin V, Van Dyck C, Van Eldik L, Vance J, Vardarajan B, Vassar R, Vinters H, Wang L, Weintraub S, Welsh‐Bohmer K, Wheeler N, Wijsman E, Wilhelmsen K, Williams B, Williamson J, Wilms H, Wingo T, Wisniewski T, Woltjer R, Woon M, Younkin S, Yu L, Zhao Y, Zhou X, Zhu C, Aizenstein H, Ances B, Andrews H, Bell K, Birn R, Brickman A, Bulova P, Cheema A, Chen K, Christian B, Clare I, Cohen A, Constantino J, Doran E, Fagan A, Feingold E, Foroud T, Handen B, Harp J, Hartley S, Head E, Henson R, Hom C, Honig L, Ikonomovic M, Johnson S, Jordan C, Kamboh M, Keator D, Klunk W, Kofler J, Krinsky‐McHale S, Lai F, Lao P, Laymon C, Lee J, Lott I, Lupson V, Mapstone M, Mathis C, Minhas D, Nadkarni N, O'Bryant S, Parisi M, Pang D, Petersen M, Price J, Pulsifer M, Rafii M, Reiman E, Rizvi B, Rosas H, Ryan L, Schmitt F, Schupf N, Silverman W, Tudorascu D, Tumuluru R, Varadarajan B, White D, Yassa M, Zaman S, Zhang F. Whole genome‐wide sequence analysis of long‐lived families (Long‐Life Family Study) identifies MTUS2 gene associated with late‐onset Alzheimer's disease. Alzheimer's & Dementia 2024, 20: 2670-2679. PMID: 38380866, PMCID: PMC11032545, DOI: 10.1002/alz.13718.Peer-Reviewed Original ResearchMeSH KeywordsAlzheimer DiseaseAmyloid beta-PeptidesGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMicrotubule-Associated ProteinsPolymorphism, Single NucleotideSequence AnalysisConceptsLate-onset Alzheimer's diseaseGenes associated with late-onset Alzheimer's diseaseLate-onset Alzheimer's disease riskSeveral single nucleotide polymorphismsVariants associated with late-onset Alzheimer diseaseBeta-amyloidIdentified several single nucleotide polymorphismsWhole-genome sequence analysisGenome sequence analysisLevels of beta-amyloidAlzheimer's diseaseTight linkage disequilibriumMicrotubule associated proteinSingle nucleotide polymorphismsFamily studiesCandidate lociMTUS2Linkage disequilibriumSequence analysisAssociation analysisNucleotide polymorphismsGenetic associationAlzheimer's dementiaAssociated proteinGenetic component
2023
LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry.
Katsumata Y, Fardo D, Shade L, Bowen J, Crane P, Jarvik G, Keene C, Larson E, McCormick W, McCurry S, Mukherjee S, Kowall N, McKee A, Honig R, Lawrence S, Vonsattel J, Williamson J, Small S, Burke J, Hulette C, Welsh-Bohmer K, Gearing M, Lah J, Levey A, Wingo T, Apostolova L, Farlow M, Ghetti B, Saykin A, Spina S, Albert M, Lyketsos C, Troncoso J, Frosch M, Green R, Growdon J, Hyman B, Tanzi R, Potter H, Dickson D, Ertekin-Taner N, Graff-Radford N, Parisi J, Petersen R, Duara R, Buxbaum J, Goate A, Sano M, Masurkar A, Wisniewski T, Bigio E, Mesulam M, Weintraub S, Vassar R, Kaye J, Quinn J, Woltjer R, Barnes L, Bennett D, Schneider J, Yu L, Henderson V, Fallon K, Harrell L, Marson D, Roberson E, DeCarli C, Jin L, Olichney J, Kim R, LaFerla F, Monuki E, Head E, Sultzer D, Geschwind D, Vinters H, Chesselet M, Galasko D, Brewer J, Boxer A, Karydas A, Kramer J, Miller B, Rosen H, Seeley W, Burns J, Swerdlow R, Abner E, Fardo D, Van Eldik L, Albin R, Lieberman A, Paulson H, Arnold S, Trojanowski J, Van Deerlin V, Hamilton R, Kamboh M, Lopez O, Becker J, Cao C, Raj A, Smith A, Chui H, Miller C, Ringman J, Schneider L, Bird T, Sonnen J, Yu C, Grabowski T, Peskind E, Raskind M, Li G, Tsuang D, Asthana S, Atwood C, Carlsson C, Sager M, Chin N, Craft S, Cairns N, Morris J, Cruchaga C, Strittmatter S, Reiman E, Beach T, Huentelman M, Hardy J, Myers A, Kauwe J, Hakonarson H, Blacker D, Montine T, Baldwin C, Farrer L, Jun G, Lunetta K, Bush W, Haines J, Lerner A, Zhou X, Barral S, Reitz C, Vardarajan B, Mayeux R, Beecham G, Carney R, Cuccaro M, Gilbert J, Hamilton-Nelson K, Kunkle B, Martin E, Pericak-Vance M, Vance J, Cantwell L, Kuzma A, Malamon J, Naj A, Qu L, Schellenberg G, Valladares O, Wang L, Zhao Y, Leverenz J, De Jager P, Evans D, Katz M, Lipton R, Boeve B, Allen M, Carrasquillo M, Younkin S, Kukull W, Faber K, Foroud T, Pavlik V, Massman P, Darby E, Rodriguear M, Khaleeq A, Royall D, Stevens A, Ory M, DeToledo J, Wilms H, Johnson K, Perez V, Hernandez M, Wilhelmsen K, Tilson J, Chasse S, Barber R, Fairchild T, O’Bryant S, Knebl J, Hall J, Johnson L, Mains D, Alvarez L, Gamboa A, Paydarfar D, Bertelson J, Woon M, Ayres G, Aguirre A, Palmer R, Polk M, Adams P, Huebinger R, Reisch J, Rosenberg R, Cullum M, Williams B, Quiceno M, Hynan L, Smith J, Davis B, Nguyen T, Rogaeva E, George-Hyslop P, Nelson P. LATE-NC risk alleles (in TMEM106B, GRN, and ABCC9 genes) among persons with African ancestry. Journal Of Neuropathology & Experimental Neurology 2023, 82: 760-768. PMID: 37528055, PMCID: PMC10440720, DOI: 10.1093/jnen/nlad059.Peer-Reviewed Original ResearchMeSH KeywordsAgingAllelesAlzheimer DiseaseHumansMembrane ProteinsNerve Tissue ProteinsPolymorphism, Single NucleotideProgranulinsSulfonylurea ReceptorsTDP-43 ProteinopathiesConceptsSingle nucleotide variantsLimbic-predominant age-related TDP-43 encephalopathyAfrican ancestryRisk allelesIndividuals of African ancestryRisk-associated allelesTDP-43 proteinopathyGenetic risk factorsNucleotide variantsAllele frequenciesGenetic determinantsGenomics ConsortiumPersons of African ancestryTDP-43AllelesAncestryNational Alzheimer's Coordinating CenterDisease pathologyGenetic factorsNeuropathological featuresGRNAfrican American subjectsHippocampal sclerosisABCC9HS pathology