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