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
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 ResearchMeSH KeywordsAgedAlzheimer DiseaseBlack or African AmericanFemaleGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansMaleMiddle AgedConceptsIntergenic 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
2008
Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth
Budel S, Padukkavidana T, Liu BP, Feng Z, Hu F, Johnson S, Lauren J, Park JH, McGee AW, Liao J, Stillman A, Kim JE, Yang BZ, Sodi S, Gelernter J, Zhao H, Hisama F, Arnsten AF, Strittmatter SM. Genetic Variants of Nogo-66 Receptor with Possible Association to Schizophrenia Block Myelin Inhibition of Axon Growth. Journal Of Neuroscience 2008, 28: 13161-13172. PMID: 19052207, PMCID: PMC2892845, DOI: 10.1523/jneurosci.3828-08.2008.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainChick EmbryoChlorocebus aethiopsChromosome MappingCodonCOS CellsFemaleGenetic Predisposition to DiseaseGPI-Linked ProteinsGrowth ConesGrowth InhibitorsHumansMaleMiceMice, KnockoutMutationMyelin ProteinsNerve Fibers, MyelinatedNeurogenesisNeuronal PlasticityNogo Receptor 1Organ Culture TechniquesRatsReceptors, Cell SurfaceSchizophreniaConceptsMyelin inhibitionNogo-66 receptorCase-control analysisMyelin-specific genesAxonal sproutingMyelin signalGenetic predispositionAxon inhibitionNeuronal culturesPossible associationReceptor 1Disease riskAxon growthSchizophreniaAxonal proteinsPotential endophenotypeMemory functionGenetic variantsDysfunctional proteinsInhibitionSchizophrenia susceptibilityDominant negativeProtein exhibitCandidate genesChromosome 22q11
2007
No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios
Budel S, Shim SO, Feng Z, Zhao H, Hisama F, Strittmatter SM. No association between schizophrenia and polymorphisms of the PlexinA2 gene in Chinese Han Trios. Schizophrenia Research 2007, 99: 365-366. PMID: 18096369, PMCID: PMC2276648, DOI: 10.1016/j.schres.2007.10.033.Peer-Reviewed Original ResearchLRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, Nicod J, Xiong L, Joober R, Enard W, Krinsky B, Nanba E, Richardson AJ, Riley BP, Martin NG, Strittmatter SM, Möller HJ, Rujescu D, St Clair D, Muglia P, Roos JL, Fisher SE, Wade-Martins R, Rouleau GA, Stein JF, Karayiorgou M, Geschwind DH, Ragoussis J, Kendler KS, Airaksinen MS, Oshimura M, DeLisi LE, Monaco AP. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry 2007, 12: 1129-1139. PMID: 17667961, PMCID: PMC2990633, DOI: 10.1038/sj.mp.4002053.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCell Line, TransformedChromosomes, Human, Pair 2Family HealthFemaleFunctional LateralityGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGenotypeHumansIn Situ HybridizationKaryotypingMaleMembrane ProteinsMiceNerve Tissue ProteinsSchizophreniaSubcellular FractionsConceptsHuman brain asymmetryPutative genetic effectsEvolutionary originImprinted genesChromosome 2p12Candidate genesBehavioral evolutionHuman handednessNeuronal differentiationBrain asymmetryLRRTM1Specific forebrain structuresSchizophrenia/schizoaffective disorderGenetic effectsGenesSame haplotypePotential genetic influencesDirect confirmatory evidenceCommon neurodevelopmental disorderFunction underliesForebrain structuresSchizoaffective disorderHaplotypesSignificant associationNeuropsychiatric disorders