2024
Towards cascading genetic risk in Alzheimer’s disease
Altmann A, Aksman L, Oxtoby N, Young A, Weiner M, Aisen P, Petersen R, Weiner M, Aisen P, Petersen R, Jack C, Jagust W, Landau S, Rivera-Mindt M, Okonkwo O, Shaw L, Lee E, Toga A, Beckett L, Harvey D, Green R, Saykin A, Nho K, Perrin R, Tosun D, Sachdev P, Green R, Montine T, Conti C, Weiner M, Nosheny R, Fockler J, Miller M, Conti C, Kwang W, Jin C, Diaz A, Ashford M, Flenniken D, Kormos A, Petersen R, Aisen P, Rafii M, Raman R, Jimenez G, Donohue M, Salazar J, Fidell A, Boatwright V, Robison J, Zimmerman C, Cabrera Y, Walter S, Clanton T, Shaffer E, Webb C, Hergesheimer L, Smith S, Ogwang S, Adegoke O, Mahboubi P, Pizzola J, Jenkins C, Beckett L, Harvey D, Donohue M, Saito N, Diaz A, Hussen K, Okonkwo O, Rivera-Mindt M, Amaza H, Thao M, Parkins S, Ayo O, Glittenberg M, Hoang I, Germano K, Strong J, Weisensel T, Magana F, Thomas L, Guzman V, Ajayi A, Benedetto J, Talavera S, Jack C, Felmlee J, Fox N, Thompson P, DeCarli C, Forghanian-Arani A, Borowski B, Reyes C, Hedberg C, Ward C, Schwarz C, Reyes D, Gunter J, Moore-Weiss J, Kantarci K, Matoush L, Senjem M, Vemuri P, Reid R, Malone I, Thomopoulos S, Nir T, Jahanshad N, Knaack A, Fletcher E, Harvey D, Tosun-Turgut D, Chen S, Choe M, Crawford K, Yushkevich P, Das S, Jagust W, Landau S, Koeppe R, Rabinovici G, Villemagne V, LoPresti B, Perrin R, Morris J, Franklin E, Bernhardt H, Cairns N, Taylor-Reinwald L, Shaw L, Lee E, Virginia Lee M, Korecka M, Brylska M, Wan Y, Trojanowki J, Toga A, Crawford K, Neu S, Saykin A, Nho K, Foroud T, Jo T, Risacher S, Craft H, Apostolova L, Nudelman K, Faber K, Potter Z, Lacy K, Kaddurah-Daouk R, Shen L, Karlawish J, Erickson C, Grill J, Largent E, Harkins K, Weiner M, Thal L, Kachaturian Z, Frank R, Snyder P, Buckholtz N, Hsiao J, Ryan L, Molchan S, Khachaturian Z, Carrillo M, Potter W, Barnes L, Bernard M, González H, Ho C, Hsiao J, Jackson J, Masliah E, Masterman D, Okonkwo O, Perrin R, Ryan L, Silverberg N, Silbert L, Kaye J, White S, Pierce A, Thomas A, Clay T, Schwartz D, Devereux G, Taylor J, Ryan J, Nguyen M, DeCapo M, Shang Y, Schneider L, Munoz C, Ferman D, Conant C, Martin K, Oleary K, Pawluczyk S, Trejo E, Dagerman K, Teodoro L, Becerra M, Fairooz M, Garrison S, Boudreau J, Avila Y, Brewer J, Jacobson A, Gama A, Kim C, Little E, Frascino J, Ferng N, Trujillo S, Heidebrink J, Koeppe R, MacDonald S, Malyarenko D, Ziolkowski J, O'Connor J, Robert N, Lowe S, Rogers V, Petersen R, Hackenmiller B, Boeve B, Albers C, Kreuger C, Jones D, Knopman D, Botha H, Magnuson J, Graff-Radford J, Crawley K, Schumacher M, McKinzie S, Smith S, Helland T, Lowe V, Ramanan V, Pavlik V, Faircloth J, Bishop J, Nath J, Chaudhary M, Kataki M, Yu M, Pacini N, Barker R, Brooks R, Aggarwal R, Honig L, Stern Y, Mintz A, Cordona J, Hernandez M, Long J, Arnold A, Groves A, Middleton A, Vogler B, McCurry C, Mayo C, Raji C, Amtashar F, Klemp H, Elmore H, Ruszkiewicz J, Kusuran J, Stewart J, Horenkamp J, Greeson J, Wever K, Vo K, Larkin K, Rao L, Schoolcraft L, Gallagher L, Paczynski M, McMillan M, Holt M, Gagliano N, Henson R, LaBarge R, Swarm R, Munie S, Cepeda S, Winterton S, Hegedus S, Wilson T, Harte T, Bonacorsi Z, Geldmacher D, Watkins A, Barger B, Smelser B, Bates C, Stover C, McKinley E, Ikner G, Hendrix H, Cooper H, Mahaffey J, Robbins L, Ashley L, Natelson-Love M, Carter P, Solomon V, Grossman H, Groome A, Ardolino A, Kaplan A, Sheppard F, Burgos-Rivera G, Garcia-Camilo G, Lim J, Neugroschl J, Jackson K, Evans K, Soleimani L, Sano M, Ghesani N, Binder S, Apuango X, Sood A, Troutman A, Blanchard K, Richards A, Nelson G, Hendrickson K, Yurko E, Plenge J, Rufo V, Shah R, Duara R, Lynch B, Chirinos C, Dittrich C, Campbell D, Mejia D, Perez G, Colvee H, Gonzalez J, Gondrez J, Knaack J, Acevedo M, Cereijo M, Greig-Custo M, Villar M, Wishnia M, Detling S, Barker W, Albert M, Moghekar A, Rodzon B, Demsky C, Pontone G, Pekar J, Farrington L, Pomper M, Johnson N, Alo T, Sadowski M, Ulysse A, Masurkar A, Marti B, Mossa D, Geesey E, Petrocca E, Schulze E, Wong J, Boonsiri J, Kenowsky S, Martinez T, Briglall V, Doraiswamy P, Nwosu A, Adhikari A, Hellegers C, Petrella J, James O, Wong T, Hawk T, Vaishnavi S, McCoubrey H, Nasrallah I, Rovere R, Maneval J, Robinson E, Rivera F, Uffelman J, Combs M, O'Donnell P, Manning S, King R, Nieto A, Glueck A, Mandal A, Swain A, Gamble B, Meacham B, Forenback D, Ross D, Cheatham E, Hartman E, Cornell G, Harp J, Ashe L, Goins L, Watts L, Yazell M, Mandal P, Buckler R, Vincent S, Rudd T, Lopez O, Malia A, Chiado C, Zik C, Ruszkiewicz J, Savage K, Fenice L, Oakley M, Tacey P, Berman S, Bowser S, Hegedus S, Saganis X, Porsteinsson A, Mathewson A, Widman A, Holvey B, Clark E, Morales E, Young I, Ruszkiewicz J, Hopkins K, Martin K, Kowalski N, Hunt R, Calzavara R, Kurvach R, D'Ambrosio S, Thai G, Vides B, Lieb B, McAdams-Ortiz C, Toso C, Mares I, Moorlach K, Liu L, Corona M, Nguyen M, Tallakson M, McDonnell M, Rangel M, Basheer N, Place P, Romero R, Tam S, Nguyen T, Thomas A, Frolov A, Khera A, Browning A, Kelley B, Dawson C, Mathews D, Most E, Phillips E, Nguyen L, Nunez M, Miller M, Jones M, Martinez N, Logan R, McColl R, Pham S, Fox T, Moore T, Levey A, Brown A, Kippels A, Ellison A, Lyons C, Hales C, Parry C, Williams C, McCorkle E, Harris G, Rose H, Jooma I, Al-Amin J, Lah J, Webster J, Swiniarski J, Chapman L, Donnelly L, Mariotti L, Locke M, Vaughn P, Penn R, Carpentier S, Yeboah S, Basadre S, Malakauskas S, Lyron S, Villinger T, Burney T, Burns J, Abusalim A, Dahlgren A, Montero A, Arthur A, Dooly H, Kreszyn K, Berner K, Gillen L, Scanlan M, Madison M, Mathis N, Switzer P, Townley R, Fikru S, Sullivan S, Wright E, Beigi M, Daley A, Ko A, Luong B, Nyborg G, Morales J, Durbin K, Garcia L, Parand L, Macias L, Monserratt L, Farchi M, Wu P, Hernandez R, Rodriguez T, Graff-Radford N, Marolt A, Thomas A, Aloszka D, Moncayo E, Westerhold E, Day G, Chrestensen K, Imhansiemhonehi M, McKinzie S, Stephens S, Grant S, Brosch J, Perkins A, Saunders A, Kovac D, Polson H, Mwaura I, Mejia K, Britt K, King K, Nichols K, Lawrence K, Rankin L, Farlow M, Wiesenauer P, Bryant R, Herring S, Lynch S, Wilson S, Day T, Korst W, van Dyck C, Mecca A, Miller A, Brennan A, Khan A, Ruan A, Gunnoud C, Mendonca C, Raynes-Goldfinger D, Salardini E, Hidalgo E, Cooper E, Singh E, Murphy E, May J, Stanhope J, Lam J, Waszak J, Nelsen K, Sacaza K, Hasbani M, Donahue M, Chen M, Barcelos N, Eigenberger P, Bonomi R, O'Dell R, Jefferson S, Khasnavis S, Smilowitz S, DeStefano S, Good S, Camarro T, Clayton V, Cavrel Y, Lu Y, Chertkow H, Bergman H, Hosein C, Black S, Kapadia A, Bhan A, Lam B, Scott C, Gabriel G, Bray J, Zotovic L, Gutierrez M, Masellis M, Farshadi M, Gui M, Mitchell M, Taylor R, Endre R, Taghi-Zada Z, Hsiung R, English C, Kim E, Yau E, Tong H, Barlow L, Jennings L, Assaly M, Nunes P, Marian T, Kertesz A, Rogers J, Trost D, Wint D, Bernick C, Munic D, Grant I, Korkoyah A, Raja A, Lapins A, Ryan C, Pejic J, Basham K, Lukose L, Haddad L, Quinlan L, Houghtaling N, MD C, MD W, MD T, Reynolds B, Forero A, Ward C, Brennan E, Figueroa E, Esposito G, Mallory J, Johnson K, Turner K, Seidenberg K, McCann K, Bassett M, Chadwick M, Turner R, Bean R, Sharma S, Marshall G, Haviari A, Pietras A, Wallace B, Munro C, Rivera-Delpin G, Hustead H, Levesque I, Ramirez J, Nolan K, Glennon K, Palou M, Erkkinen M, DaSilva N, Friedman P, Silver R, Salazar R, Polleys R, McGinnis S, Gale S, Hall T, Luu T, Chao S, Lin E, Coleman J, Epperson K, Vasanawala M, Atri A, Rangel A, Evans B, Monarrez C, Cline C, Liebsack C, Bandy D, Goldfarb D, Intorcia D, Olgin J, Clark K, King K, York K, Reade M, Callan M, Glass M, Johnson M, Gutierrez M, Goddard M, Trncic N, Choudhury P, Reyes P, Lowery S, Hall S, Olgin S, de Santiago S, Alosco M, Ton A, Jimenez A, Ellison A, Tran A, Anderson B, Carter D, Veronelli D, Lenio S, Steinberg E, Mez J, Weller J, Johns J, Mez J, Harkins J, Puleio A, Hoti I, Mwicigi J, Puleio A, Alosco M, Schultz O, Lauture M, Steinberg E, Denis R, Killiany R, Singh S, Lenio S, Qiu W, Devis Y, Obisesan T, Stone A, Ordor D, Udodong I, Okonkwo I, Khan J, Turner J, Hughes K, Kadiri O, Duffy C, Moss A, Stapleton K, Toth M, Sanders M, Ayres M, Hamski M, Fatica P, Ogrocki P, Ash S, Pot S, Chen D, Soto A, Tanase C, Bissig D, Vanya H, Russell H, Patel H, Zhang H, Wallace K, Ayers K, Gallegos M, Forloines M, Sinn M, Kahulugan Q, Isip R, Calderon S, Hamm T, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Perrin A, Tariot P, Fleisher A, Reeder S, Capote H, Emborsky A, Mattle A, Ajtai B, Wagner B, Myers B, Slazyk D, Fragale D, Fransen E, Macnamara H, Falletta J, Hirtreiter J, Mechtler L, King M, Asbach M, Rainka M, Zawislak R, Wisniewski S, O'Malley S, Jimenez-Knight T, Peehler T, Aladeen T, Bates V, Wenner V, Elmalik W, Scharre D, Ramamurthy A, Bouchachi S, Kataki M, Tarawneh R, Kelley B, Celmins D, Leader A, Figueroa C, Bauerle H, Patterson K, Reposa M, Presto S, Ahmed T, Stewart W, Pearlson G, Blank K, Anderson K, Santulli R, Schwartz E, Williamson J, Jessup A, Williams A, Duncan C, O'Connell A, Gagnon K, Zamora E, Bateman J, Crawford F, Thompson D, Walker E, Rowell J, White M, Ledford P, Bohlman S, Henkle S, Bottoms J, Moretz L, Hoover B, Shannon M, Rogers S, Baker W, Harrison W, Wu C, DeMarco A, Stipanovich A, Arcuri D, Clark J, Davis J, Doyon K, Amoyaw M, Acosta M, Bailey R, Warren S, Fogerty T, Sanborn V, Hospital B, Riddle M, Salloway S, Malloy P, Correia S, Windon C, Blackburn M, Rosen H, Miller B, Smith A, Mba I, Echevarria J, Janavs J, Roglaski E, Yong M, Devine R, Okhravi H, Rivera E, Kalowsky T, Smith C, Rosario C, Masdeu J, Le R, Gurung M, Sabbagh M, Garcia A, Slaughter M, Elayan N, Acothley S, Pomara N, Hernando R, Pomara V, Reichert C, Brawman-Mintzer O, Acree A, Williams A, Long C, Long R, Newhouse P, Hill S, Boegel A, Seshadri S, Saklad A, Jones F, Hu W, Sotelo V, Rojas Y, Mintzer J, Longmire C, Spicer K, Alexander D, Barkhof F, Shoai M, Hardy J, Schott J. Towards cascading genetic risk in Alzheimer’s disease. Brain 2024, 147: 2680-2690. PMID: 38820112, PMCID: PMC11292901, DOI: 10.1093/brain/awae176.Peer-Reviewed Original ResearchConceptsLate-onset Alzheimer's diseaseAlzheimer's diseaseGenetic riskDevelopment of late-onset Alzheimer's diseaseGenome-wide association studiesPolygenic riskAlzheimer's Disease Neuroimaging Initiative cohortPolygenic risk scoresStage-dependent fashionAssociation studiesYears of educationCox proportional hazards modelsAPOE effectsProportional hazards modelA+TContribution of apoEAPOE-e4Targeted interventionsMolecular processesATN frameworkE4 homozygotesRisk scoreStage-dependent effectsInitiative cohortAlzheimer
2019
Multivariate Analyses Reveal Biological Components Related to Neuronal Signaling and Immunity Mediating Electroencephalograms Abnormalities in Alcohol‐Dependent Individuals from the Collaborative Study on the Genetics of Alcoholism Cohort
Meda SA, Narayanan B, Chorlian D, Meyers JL, Gelernter J, Hesselbrock V, Bauer L, Calhoun VD, Porjesz B, Pearlson G. Multivariate Analyses Reveal Biological Components Related to Neuronal Signaling and Immunity Mediating Electroencephalograms Abnormalities in Alcohol‐Dependent Individuals from the Collaborative Study on the Genetics of Alcoholism Cohort. Alcohol Clinical And Experimental Research 2019, 43: 1462-1477. PMID: 31009096, DOI: 10.1111/acer.14063.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAlcoholismCase-Control StudiesCohort StudiesElectroencephalographyFemaleGenetic Association StudiesGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedMultigene FamilyNeuronsPhenotypePolymorphism, Single NucleotideSignal TransductionSubstance-Related DisordersWhite PeopleYoung AdultConceptsGenetic clustersSingle nucleotide polymorphism dataSignificant genotype-phenotype associationsNucleotide polymorphism dataLipid/cholesterol metabolismLinkage-based analysisGenotype-phenotype relationshipsGenotype-phenotype associationsGene clusterCell signalingPolymorphism dataMolecular mechanismsAlcoholism datasetGenomewide associationTop hitsGenetic componentNeuronal signalingGeneticsSignalingBiological componentsRelationship pairsCholesterol metabolismNeurogenesisSNP componentParallel independent component analysis
2018
Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis
Zhou X, Chen Y, Mok K, Zhao Q, Chen K, Chen Y, Hardy J, Li Y, Fu A, Guo Q, Ip N, Saykin A, Toga A, Borowski B, Ward C, DeCarli C, Mathis C, Jack C, Harvey D, Holtzman D, Jones D, Gessert D, Lilly E, Reiman E, Franklin E, Hefti F, Sorensen G, Jimenez G, Fillit H, Gunter J, Salazar J, Hsiao J, Morris J, Trojanowki J, Neu K, Kantarci K, Faber K, Harless K, Chen K, Nho K, Beckett L, Thal L, Thal L, Shaw L, Kuller L, Shen L, Hergesheimer L, Taylor-Reinwald L, Mesulam M, Korecka M, Raichle M, Carrillo M, Albert M, Senjem M, Bernstein M, Donohue M, Weiner M, Figurski M, Buckholtz N, Fox N, Cairns N, Schuff N, Foster N, Aisen P, Thompson P, Davies P, Snyder P, Snyder P, Vemuri P, Frank R, Koeppe R, Green R, Petersen R, Walter S, Paul S, Potkin S, Kim S, Foroud T, Montine T, Lee V, Jagust W, Potter W, Cabrera Y, Khachaturian Z, Fleisher A, Pierce A, Mintz A, Lerner A, Norbash A, Levey A, Rosen A, Smith A, Ulysse A, Budson A, Kertesz A, Oliver A, Hake A, Burke A, Sarrael A, Porsteinsson A, Lamb A, Lee A, Raj B, Lane B, Yanez B, Ances B, Mudge B, Lind B, Stefanovic B, Goldstein B, Bonakdarpour B, Matthews B, Ott B, Reynolds B, Miller B, Spann B, Sadowsky C, Bernick C, Smith C, Onyike C, Heyn C, Hosein C, Leach C, Belden C, van Dyck C, Clark C, Wu C, Albers C, Brand C, Bodge C, Tatsuoka C, Carlsson C, Mathews D, D’Agostino D, Silverman D, Marson D, Wolk D, Bachman D, Clark D, Geldmacher D, Hart D, Knopman D, Perry D, Winkfield D, Miller D, Kerwin D, Drost D, Simpson D, Munic D, Scharre D, Bartha R, Celmins D, Zimmerman E, Teng E, Coleman E, Zamrini E, Mitsis E, Finger E, Oates E, Sosa E, Woo E, Rogalski E, Fletcher E, Parfitt F, Thai G, Marshall G, Conrad G, Tremont G, Bartzokis G, Hsiung G, Chiang G, Pearlson G, Jicha G, Vanderswag H, Grossman H, Capote H, Bergman H, Chertkow H, Feldman H, Rosen H, Koleva H, Shim H, Rachinsky I, Mintzer J, Ziolkowski J, Brewer J, Lah J, Singleton-Garvin J, Cellar J, Brosch J, Tinklenberg J, Karlawish J, Villanueva-Meyer J, Kaye J, Burns J, Petrella J, Yesavage J, Allard J, Lord J, Hetelle J, Brockington J, Morris J, Olichney J, Rogers J, Quinn J, Kass J, Taylor J, Heidebrink J, Anderson K, Blank K, Smith K, Bell K, Johnson K, Tingus K, DeMarco K, Sink K, Johnson K, Makino K, Spicer K, Nam K, Martin K, Poki-Walker K, Johnson K, Fargher K, Lipowski K, Womack K, Flashman L, Honig L, Apostolova L, Teodoro L, Silbert L, Ravdin L, Schneider L, Daiello L, Ismail M, Seltzer M, Mesulam M, Carroll M, Kataki M, Greig-Custo M, Love M, Mintun M, Farlow M, Sadowski M, Creech M, Hynes M, Quiceno M, Oakley M, Becerra M, Witbracht M, Keltz M, Lamar M, Yang M, Borrie M, Lin M, Assaly M, Rainka M, Dang M, Sheikh M, Gaikwad M, Chowdhury M, Trncic N, Johnson N, Kowalksi N, Pacini N, Kowall N, Graff-Radford N, Relkin N, Oyonumo N, Pomara N, James O, Ogunlana O, Lopez O, Carmichael O, Doraiswamy P, Fatica P, Johnson P, Samuels P, Malloy P, Ogrocki P, Maillard P, Hardy P, Tariot P, Lu P, Varma P, Doody R, Carter R, Shah R, Griffith R, Yeh R, Duara R, Tarawneh R, Turner R, Hernando R, Sperling R, Carson R, El Khouli R, Santulli R, Killiany R, Rodriguez R, Swerdlow R, Borges-Neto S, Black S, Weintraub S, Asthana S, Vaishnavi S, Dolen S, Mason S, Kremen S, Herring S, Sirrel S, Kittur S, Pawluczyk S, Schneider S, Kielb S, Reeder S, Correia S, Pasternack S, Pasternak S, Salloway S, Johnson S, Chao S, Arnold S, Schultz S, Rountree S, Lee T, Wong T, Villena T, Obisesan T, Pavlik V, Bates V, Sossi V, Shibley V, Brooks W, Pavlosky W, Stern Y, Simon A, Dongre A, Dean B, Navia B, Spellman D, Lee D, Shera D, Siemers E, Pickering E, Swenson F, Immerman F, Nomikos G, Soares H, Wan H, Seeburger J, Waring J, Trojanowski J, Siuciak J, Duffin K, Shaw L, Wang L, Thambisetty M, Walton M, Savage M, Ferm M, Kuhn M, Buckholtz N, Zagouras P, Cole P, Hendrickson R, Xie S, Allauzen S, Koroshetz W, Potter W. Identification of genetic risk factors in the Chinese population implicates a role of immune system in Alzheimer’s disease pathogenesis. Proceedings Of The National Academy Of Sciences Of The United States Of America 2018, 115: 1697-1706. PMID: 29432188, PMCID: PMC5828602, DOI: 10.1073/pnas.1715554115.Peer-Reviewed Original ResearchConceptsAlzheimer's diseaseChinese populationAD subjectsDisease pathogenesisImmune systemPlasma biomarker levelsEarly disease onsetMinor allele carriersAlzheimer's disease (AD) pathogenesisGenetic risk factorsImmune-related pathwaysCommon variantsGenotype-phenotype analysisDisease onsetRisk factorsBiomarker levelsLeading causeOnset ageAllele carriersAD riskAD cohortPossible risk effectsFunctional effectsExpression levelsRegulatory effects
2016
Polygenic risk of Alzheimer disease is associated with early- and late-life processes
Mormino EC, Sperling RA, Holmes AJ, Buckner RL, De Jager PL, Smoller JW, Sabuncu MR, Weiner M, Aisen P, Weiner M, Aisen P, Petersen R, Jack C, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Green R, Montine T, Petersen R, Aisen P, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Beckett L, Harvey D, Gamst A, Donohue M, Kornak J, Jack C, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Jagust W, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Morris J, Cairns N, Taylor-Reinwald L, Trojanowki J, Shaw L, Lee V, Korecka M, Toga A, Crawford K, Neu S, Saykin A, Foroud T, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder P, Molchan S, Kaye J, Quinn J, Lind B, Dolen S, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Petersen R, Johnson K, Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Ances B, Carroll M, Leon S, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, De Santi S, Doraiswamy P, Petrella J, Coleman R, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Porsteinsson A, Goldstein B, Martin K, Makino K, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Womack K, Mathews D, Quiceno M, Diaz-Arrastia R, King R, Weiner M, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Apostolova L, Lu P, Bartzokis G, Silverman D, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Hake A, Matthews B, Herring S, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Robin Hsiung G, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam M, Lipowski K, Wu C, Johnson N, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Johnson K, Marshall G, Frey M, Yesavage J, Taylor J, Lane B, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Kowall N, Killiany R, Budson A, Norbash A, Johnson P, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, Fletcher E, Carmichael O, Olichney J, DeCarli C, Kittur S, Borrie M, Lee T, Bartha D, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Schwartz E, Sink K, Williamson J, Garg P, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Finger E, Rachinsky I, Rogers J, Kertesz A, Drost D, Pomara N, Hernando R, Sarrael A, Schultz S, Boles Ponto L, Shim H, Smith K, Relkin N, Chaing G, Raudin L, Smith A, Fargher K, Raj B. Polygenic risk of Alzheimer disease is associated with early- and late-life processes. Neurology 2016, 87: 481-488. PMID: 27385740, PMCID: PMC4970660, DOI: 10.1212/wnl.0000000000002922.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAlzheimer DiseaseAmyloid beta-PeptidesAniline CompoundsAtrophyBiomarkersCognition DisordersCohort StudiesEarly DiagnosisEthylene GlycolsFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHippocampusHumansMaleMemory DisordersMultifactorial InheritancePolymorphism, Single NucleotidePositron-Emission TomographyYoung AdultConceptsHigher polygenic risk scorePolygenic risk scoresHippocampus volumeRisk scoreLarge observational cohort studyCommon genetic risk lociSmaller hippocampus volumesΒ-amyloid burdenObservational cohort studyGenetic riskElevated polygenic risk scoresAlzheimer's disease markersCSF β-amyloidLongitudinal cognitive declineHealthy young participantsCohort studyClinical progressionClinical symptomsAD dementiaAD markersSmaller hippocampiFlorbetapir PETAggregate genetic riskΒ-amyloidGenome-wide association studies
2013
Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity
Jahanshad N, Rajagopalan P, Hua X, Hibar D, Nir T, Toga A, Jack C, Saykin A, Green R, Weiner M, Medland S, Montgomery G, Hansell N, McMahon K, de Zubicaray G, Martin N, Wright M, Thompson P, Weiner M, Aisen P, Weiner M, Aisen P, Petersen R, Jack C, Jagust W, Trojanowski J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Green R, Montine T, Petersen R, Aisen P, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Beckett L, Harvey D, Gamst A, Donohue M, Kornak J, Jack C, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Jagust W, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Morris J, Cairns N, Taylor-Reinwald L, Trojanowki J, Shaw L, Lee V, Korecka M, Toga A, Crawford K, Neu S, Saykin A, Foroud T, Potkin S, Shen L, Khachaturian Z, Frank R, Snyder P, Molchan S, Kaye J, Quinn J, Lind B, Dolen S, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Petersen R, Johnson K, Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Ances B, Carroll M, Leon S, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, De Santi S, Doraiswamy P, Petrella J, Coleman R, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Porsteinsson A, Goldstein B, Martin K, Makino K, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Womack K, Mathews D, Quiceno M, Diaz-Arrastia R, King R, Weiner M, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Apostolova L, Lu P, Bartzokis G, Silverman D, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Hake A, Matthews B, Herring S, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Hsiung G, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam M, Lipowski K, Wu C, Johnson N, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Johnson K, Marshall G, Frey M, Yesavage J, Taylor J, Lane B, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Kowall N, Killiany R, Budson A, Norbash A, Johnson P, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, Fletcher E, Carmichael O, Olichney J, DeCarli C, Kittur S, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Schwartz E, Sink K, Williamson J, Garg P, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Finger E, Rachinsky I, Rogers J, Kertesz A, Drost D. Genome-wide scan of healthy human connectome discovers SPON1 gene variant influencing dementia severity. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: 4768-4773. PMID: 23471985, PMCID: PMC3606977, DOI: 10.1073/pnas.1216206110.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlzheimer DiseaseAutistic DisorderBrainChromosomes, Human, Pair 11Endosomal Sorting Complexes Required for TransportExtracellular Matrix ProteinsFemaleGenetic VariationGenome-Wide Association StudyHumansMagnetic Resonance ImagingMaleNedd4 Ubiquitin Protein LigasesRadiographySeverity of Illness IndexTwins, DizygoticTwins, MonozygoticUbiquitin-Conjugating EnzymesUbiquitin-Protein LigasesConceptsAlzheimer's diseaseBrain connectionsHuman brain wiringDegree of dementiaAssociation of connectivityBrain connectivity patternsConnectivity patternsAberrant connectivityDementia scoreDementia severityElderly populationLower riskPsychiatric disordersHealthy young adult twinsPosthoc analysisBrain wiringBrain diseasesFamily-based studyDiseaseBrain structuresBrain connectivityOlder peopleGene variantsMental retardationYoung adult twins
2012
Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans
Bakken TE, Roddey JC, Djurovic S, Akshoomoff N, Amaral DG, Bloss CS, Casey BJ, Chang L, Ernst TM, Gruen JR, Jernigan TL, Kaufmann WE, Kenet T, Kennedy DN, Kuperman JM, Murray SS, Sowell ER, Rimol LM, Mattingsdal M, Melle I, Agartz I, Andreassen OA, Schork NJ, Dale AM, Weiner M, Aisen P, Petersen R, Jack C, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Saykin A, Morris J, Liu E, Montine T, Gamst A, Thomas R, Donohue M, Walter S, Gessert D, Sather T, Harvey D, Kornak J, Dale A, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, DeCarli C, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Mathis C, Cairns N, Taylor-Reinwald L, Trojanowki J, Shaw L, Lee V, Korecka M, Crawford K, Neu S, Foroud T, Potkin S, Shen L, Kachaturian Z, Frank R, Snyder P, Molchan S, Kaye J, Quinn J, Lind B, Dolen S, Schneider L, Pawluczyk S, Spann B, Brewer J, Vanderswag H, Heidebrink J, Lord J, Johnson K, Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Ances B, Carroll M, Leon S, Mintun M, Schneider S, Marson D, Griffith R, Clark D, Grossman H, Mitsis E, Romirowsky A, deToledo-Morrell L, Shah R, Duara R, Varon D, Roberts P, Albert M, Onyike C, Kielb S, Rusinek H, de Leon M, Glodzik L, De Santi S, Doraiswamy P, Petrella J, Coleman R, Arnold S, Karlawish J, Wolk D, Smith C, Jicha G, Hardy P, Lopez O, Oakley M, Simpson D, Porsteinsson A, Goldstein B, Martin K, Makino K, Ismail M, Brand C, Mulnard R, Thai G, Mc-Adams-Ortiz C, Womack K, Mathews D, Quiceno M, Diaz-Arrastia R, King R, Weiner M, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Swerdlow R, Apostolova L, Lu P, Bartzokis G, Silverman D, Graff-Radford N, Parfitt F, Johnson H, Farlow M, Hake A, Matthews B, Herring S, van Dyck C, Carson R, MacAvoy M, Chertkow H, Bergman H, Hosein C, Black S, Stefanovic B, Caldwell C, Ging-Yuek, Hsiung R, Feldman H, Mudge B, Assaly M, Kertesz A, Rogers J, Trost D, Bernick C, Munic D, Kerwin D, Mesulam M, Lipowski K, Wu C, Johnson N, Sadowsky C, Martinez W, Villena T, Turner R, Johnson K, Reynolds B, Sperling R, Johnson K, Marshall G, Frey M, Yesavage J, Taylor J, Lane B, Rosen A, Tinklenberg J, Sabbagh M, Belden C, Jacobson S, Kowall N, Killiany R, Budson A, Norbash A, Johnson P, Obisesan T, Wolday S, Bwayo S, Lerner A, Hudson L, Ogrocki P, Fletcher E, Carmichael O, Olichney J, Kittur S, Borrie M, Lee T, Bartha R, Johnson S, Asthana S, Carlsson C, Potkin S, Preda A, Nguyen D, Tariot P, Fleisher A, Reeder S, Bates V, Capote H, Rainka M, Scharre D, Kataki M, Zimmerman E, Celmins D, Brown A, Pearlson G, Blank K, Anderson K, Santulli R, Schwartz E, Sink K, Williamson J, Garg P, Watkins F, Ott B, Querfurth H, Tremont G, Salloway S, Malloy P, Correia S, Rosen H, Miller B, Mintzer J, Longmire C, Spicer K, Finger E, Rachinsky I, Drost D, Jernigan T, McCabe C, Grant E, Ernst T, Kuperman J, Chung Y, Murray S, Bloss C, Darst B, Pritchett L, Saito A, Amaral D, DiNino M, Eyngorina B, Sowell E, Houston S, Soderberg L, Kaufmann W, van Zijl P, Rizzo-Busack H, Javid M, Mehta N, Ruberry E, Powers A, Rosen B, Gebhard N, Manigan H, Frazier J, Kennedy D, Yakutis L, Hill M, Gruen J, Bosson-Heenan J, Carlson H. Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans. Proceedings Of The National Academy Of Sciences Of The United States Of America 2012, 109: 3985-3990. PMID: 22343285, PMCID: PMC3309762, DOI: 10.1073/pnas.1105829109.Peer-Reviewed Original ResearchConceptsGenome-wide significant associationWide association studyCommon genetic variationCommon genetic variantsGenes genomeGenomic regionsProportional surface areasAssociated SNPsGenetic variationGenetic mechanismsAssociation studiesStrong linkage disequilibriumLinkage disequilibriumGenetic variantsSNPsNormal cortical architectureEnvironmental factorsRemainder of cortexCortical surface areaVisual cortexTwo- toGenomeHomologUTRGenes