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 ResearchConceptsLate-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
2021
Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel
Kunkle BW, Schmidt M, Klein HU, Naj AC, Hamilton-Nelson KL, Larson EB, Evans DA, De Jager PL, Crane PK, Buxbaum JD, Ertekin-Taner N, Barnes LL, Fallin MD, Manly JJ, Go RCP, Obisesan TO, Kamboh MI, Bennett DA, Hall KS, Goate AM, Foroud TM, Martin ER, Wang L, Byrd GS, Farrer LA, Haines JL, Schellenberg GD, Mayeux R, Pericak-Vance MA, Reitz C, Abner E, Adams P, Albin R, Apostolova L, Arnold S, Atwood C, Baldwin C, Barber R, Barral S, Beach T, Becker J, Beecham G, Bigio E, Bird T, Blacker D, Boeve B, Bowen J, Boxer A, Burke J, Burns J, Cairns N, Cao C, Carlsson C, Carney R, Carrasquillo M, Cribbs D, Cruchaga C, Dick M, Dickson D, Doody R, Duara R, Faber K, Fairchild T, Fallon K, Fardo D, Farlow M, Ferris S, Frosch M, Galasko D, Gearing M, Geschwind D, Ghetti B, Gilbert J, Green R, Growdon J, Hakonarson H, Hamilton R, Hardy J, Harrell L, Honig L, Huebinger R, Huentelman M, Hulette C, Jarvik G, Jin L, Karydas A, Katz M, Kauwe J, Keene C, Kim R, Kramer J, Lah J, Leung Y, Li G, Lieberman A, Lipton R, Lyketsos C, Malamon J, Marson D, Martiniuk F, Masliah E, McCormick W, McCurry S, McDavid A, McDonough S, McKee A, Mesulam M, Miller B, Miller C, Montine T, Mukherjee S, Myers A, O’Bryant S, Olichney J, Parisi J, Peskind E, Pierce A, Poon W, Potter H, Qu L, Quinn J, Raj A, Raskind M, Reisberg B, Reisch J, Ringman J, Roberson E, Rogaeva E, Rosen H, Royall D, Sager M, Schneider J, Schneider L, Seeley W, Small S, Sonnen J, Spina S, St George-Hyslop P, Stern R, Tanzi R, Troncoso J, Tsuang D, Valladares O, Van Deerlin V, Vardarajan B, Vinters H, Vonsattel J, Weintraub S, Welsh-Bohmer K, Wilhelmsen K, Williamson J, Wingo T, Woltjer R, Wu C, Younkin S, Yu L, Yu C, Zhao Y, Graff-Radford N, Martinez I, Ayodele T, Logue M, Cantwell L, Jean-Francois M, Kuzma A, Adams L, Vance J, Cuccaro M, Chung J, Mez J, Lunetta K, Jun G, Lopez O, Hendrie H, Reiman E, Kowall N, Leverenz J, Small S, Levey A, Golde T, Saykin A, Starks T, Albert M, Hyman B, Petersen R, Sano M, Wisniewski T, Vassar R, Kaye J, Henderson V, DeCarli C, LaFerla F, Brewer J, Miller B, Swerdlow R, Van Eldik L, Paulson H, Trojanowski J, Chui H, Rosenberg R, Craft S, Grabowski T, Asthana S, Morris J, Strittmatter S, Kukull W. Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel. JAMA Neurology 2021, 78: 102-113. PMID: 33074286, PMCID: PMC7573798, DOI: 10.1001/jamaneurol.2020.3536.Peer-Reviewed Original ResearchConceptsIntergenic lociRisk lociAlzheimer's disease genome-wide association studiesGenome-wide association studiesGenome-wide associationDisease-associated lociAlzheimer's Disease Genetics ConsortiumDisease risk lociLargest association analysisAdditional risk lociAlzheimer’s disease risk lociGene expression dataTrafficking pathwaysAdditional lociPathway analysisAssociation studiesExpression dataAssociation analysisSuggestive significanceLociFamily-based data setCommon locusNovel mechanismAlzheimer's disease etiologyGenetics Consortium