Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes
Huguet G, Renne T, Poulain C, Dubuc A, Kumar K, Kazem S, Engchuan W, Shanta O, Douard E, Proulx C, Jean-Louis M, Saci Z, Mollon J, Schultz L, Knowles E, Cox S, Porteous D, Davies G, Redmond P, Harris S, Schumann G, Dumas G, Labbe A, Pausova Z, Paus T, Scherer S, Sebat J, Almasy L, Glahn D, Jacquemont S. Effects of gene dosage on cognitive ability: A function-based association study across brain and non-brain processes. Cell Genomics 2024, 4: 100721. PMID: 39667348, PMCID: PMC11701252, DOI: 10.1016/j.xgen.2024.100721.Peer-Reviewed Original ResearchConceptsCopy-number variantsGenome-wide association studiesAssociation studiesCognitive abilitiesBiological processesEffect of gene dosageNeurodevelopmental disordersAssociated with cognitionHigher cognitive performanceGene dosageGene setsAssociated with higher cognitive performanceCognitive performanceGenesCell typesEffect sizeCognitionDeletionDuplicationDisordersNon-brain tissuesMedical comorbiditiesAbilityVariantsBrainAdmixture mapping of cognitive function in diverse Hispanic and Latino adults: Results from the Hispanic Community Health Study/Study of Latinos
Xia R, Jian X, Rodrigue A, Bressler J, Boerwinkle E, Cui B, Daviglus M, DeCarli C, Gallo L, Glahn D, Knowles E, Moon J, Mosley T, Satizabal C, Sofer T, Tarraf W, Testai F, Blangero J, Seshadri S, González H, Fornage M. Admixture mapping of cognitive function in diverse Hispanic and Latino adults: Results from the Hispanic Community Health Study/Study of Latinos. Alzheimer's & Dementia 2024, 20: 6070-6081. PMID: 38946675, PMCID: PMC11497725, DOI: 10.1002/alz.14082.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsLatino adultsAssociated to cognitive functionAdmixture mappingHispanic Community Health Study/Study of LatinosCognitive functionHispanic Community Health Study/StudyPrioritized single nucleotide polymorphismsGenetic variantsGenome-wide association studiesNon-Hispanic whitesFine-mapping analysisLoci harboring genesSample of BlackHispanic/Latino adultsPhosphoinositide lipid metabolismNeurocognitive measuresIndependent replicationAdmixture signalsUnique haplotypesGenetic architectureChromosomal regionsHarboring genesAssociation studiesNucleotide polymorphismsA genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
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L, Laurie C, Laurie C, LeBoff M, Lee J, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin X, Liu S, Liu Y, Liu Y, Loos R, Lubitz S, Lunetta K, Luo J, Magalang U, Mahaney M, Make B, Manichaikul A, Manning A, Manson J, Martin L, Marton M, Mathai S, Mathias R, May S, McArdle P, McDonald M, McFarland S, McGarvey S, McGoldrick D, McHugh C, McNeil B, Mei H, Meigs J, Menon V, Mestroni L, Metcalf G, Meyers D, Mignot E, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Moll M, Momin Z, Montasser M, Montgomery C, Muzny D, Mychaleckyj J, Nadkarni G, Naik R, Naseri T, Natarajan P, Nekhai S, Nelson S, Neltner B, Nessner C, Nickerson D, Nkechinyere O, North K, O'Connell J, O'Connor T, Ochs-Balcom H, Okwuonu G, Pack A, Paik D, Palmer N, Pankow J, Papanicolaou G, Parker C, Peloso G, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Pleiness J, Pollin T, Post W, Becker J, Boorgula M, Preuss M, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Rajendran 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C, Williams K, Williams L, Wilson J, Wilson J, Winterkorn L, Wong Q, Wu J, Xu H, Yanek L, Yang I, Yu K, Zekavat S, Zhang Y, Zhao S, Zhao W, Zhu X, Ziv E, Zody M, Zoellner S, Lindstrom S, Wang L, Smith N, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody J, Pattee J, Haessler J, Brumpton B, Chasman D, Suchon P, Chen M, Turman C, Germain M, Wiggins K, MacDonald J, Braekkan S, Armasu S, Pankratz N, Jackson R, Nielsen J, Giulianini F, Puurunen M, Ibrahim M, Heckbert S, Bammler T, Frazer K, McCauley B, Taylor K, Pankow J, Reiner A, Gabrielsen M, Deleuze J, O'Donnell C, Kim J, McKnight B, Kraft P, Hansen J, Rosendaal F, Heit J, Psaty B, Tang W, Kooperberg C, Hveem K, Ridker P, Morange P, Johnson A, Kabrhel C, AlexandreTrégouët D, Smith N. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood 2024, 143: 1845-1855. PMID: 38320121, DOI: 10.1182/blood.2023021452.Peer-Reviewed Original ResearchMendelian randomizationGene-based aggregation testingImputation of genotypesGene-based analysisMulti-phenotype analysisAssociations of factor VIIIGenetic association studiesHuman umbilical vein endothelial cellsCausal genesTrans-OmicsAssociation studiesB3GNT2Genetic associationVon Willebrand factorProtein von Willebrand factorLociIdentified associationsPDIA3Umbilical vein endothelial cellsIncreased riskMeta-analysisCarrier protein von Willebrand factorVein endothelial cellsPrecision medicineEndothelial cellsUsing rare genetic mutations to revisit structural brain asymmetry
Kopal J, Kumar K, Shafighi K, Saltoun K, Modenato C, Moreau C, Huguet G, Jean-Louis M, Martin C, Saci Z, Younis N, Douard E, Jizi K, Beauchamp-Chatel A, Kushan L, Silva A, van den Bree M, Linden D, Owen M, Hall J, Lippé S, Draganski B, Sønderby I, Andreassen O, Glahn D, Thompson P, Bearden C, Zatorre R, Jacquemont S, Bzdok D. Using rare genetic mutations to revisit structural brain asymmetry. Nature Communications 2024, 15: 2639. PMID: 38531844, PMCID: PMC10966068, DOI: 10.1038/s41467-024-46784-w.Peer-Reviewed Original ResearchConceptsCopy number variationsGenome-wide association studiesBrain asymmetryPlanum temporale asymmetryHemispheric functional specializationStructural brain asymmetryCopy number variation carriersBrain-related phenotypesFacial cuesWord recognitionBrain lateralizationHuman cognitive capacitiesPerspective takingCognitive operationsRight hemispherePattern-learning approachBrain organizationLateralized functionsSusceptible to deletionGenetic influencesCognitive capacityAssociation studiesAsymmetry patternsGenomic deletionsGene sets
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