2025
Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts
Chapman N, Navas P, Dorschner M, Mehaffey M, Wigg K, Price K, Naumova O, Kerr E, Guger S, Lovett M, Grigorenko E, Berninger V, Barr C, Wijsman E, Raskind W. Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts. PLOS ONE 2025, 20: e0324006. PMID: 40424442, PMCID: PMC12112411, DOI: 10.1371/journal.pone.0324006.Peer-Reviewed Original ResearchConceptsEvidence of associationLarge-scale sequencing studiesCis-acting regulatory regionsGenome-wide association studiesAggregating rare variantsRare exonic variantsDetected significant evidenceSingle nucleotide polymorphismsGenomic variationDeleterious variantsAssociated with reduced performanceAssociation studiesLarge-effectRegulatory elementsTranscriptional regulationRegulatory regionsQuantitative phenotypesCandidate genesExonic variantsChromosome 6Sequencing studiesSingle variantsCoding exonsMultiple traitsGenetic basis
2024
Towards a Novel Frontier in the Use of Epigenetic Clocks in Epidemiology
Martínez-Magaña J, Hurtado-Soriano J, Rivero-Segura N, Montalvo-Ortiz J, Garcia-delaTorre P, Becerril-Rojas K, Gomez-Verjan J. Towards a Novel Frontier in the Use of Epigenetic Clocks in Epidemiology. Archives Of Medical Research 2024, 55: 103033. PMID: 38955096, DOI: 10.1016/j.arcmed.2024.103033.Peer-Reviewed Original ResearchImpact of public health interventionsHealth problems associated with agingPublic health interventionsPublic health strategiesEpigenetic clocksEfficacy of interventionsProblems associated with agingBiological agePublic health concernHealth interventionsHealth strategiesAssociated with ageDNA methylation levelsHuman phenomeHealthy agingHealth concernEpigenetic ageMultiple traitsHealthMethylation levelsInterventionAssociationAgeEpidemiological contextHealth spanGenome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations
Gelernter J, Levey D, Galimberti M, Harrington K, Zhou H, Adhikari K, Gupta P, Program V, Gaziano J, Eliott D, Stein M. Genome-wide association study of the common retinal disorder epiretinal membrane: Significant risk loci in each of three American populations. Cell Genomics 2024, 4: 100582. PMID: 38870908, PMCID: PMC11228954, DOI: 10.1016/j.xgen.2024.100582.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMillion Veteran ProgramRisk lociAssociation studiesTrans-ancestry meta-analysisSignificant risk lociPathway enrichment analysisEpiretinal membraneTrans-ancestryGenome-wideMultiple traitsGenetic associationEnrichment analysisGene expressionEuropean AmericansLoss of visual acuityVeteran ProgramGenetic correlationsLociBiological mechanismsAmerican populationVisual acuityRetinal conditionsControl individualsRetinal surface
2023
Cis-meQTL for cocaine use-associated DNA methylation in an HIV-positive cohort show pleiotropic effects on multiple traits
Cheng Y, Justice A, Wang Z, Li B, Hancock D, Johnson E, Xu K. Cis-meQTL for cocaine use-associated DNA methylation in an HIV-positive cohort show pleiotropic effects on multiple traits. BMC Genomics 2023, 24: 556. PMID: 37730558, PMCID: PMC10510240, DOI: 10.1186/s12864-023-09661-2.Peer-Reviewed Original ResearchConceptsDNA methylationMultiple traitsPleiotropic effectsGenetic variantsAberrant DNA methylationPhenome-wide association studyCis-meQTLsComplex traitsRelevant traitsDNAm sitesEnrichment analysisMeQTLsAssociation studiesSignificant traitsTraitsImmune pathwaysMethylationNew insightsMendelian randomizationImmunological functionsGenesVariantsCausal rolePathwayCpG
2020
Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits
Quach BC, Bray MJ, Gaddis NC, Liu M, Palviainen T, Minica CC, Zellers S, Sherva R, Aliev F, Nothnagel M, Young KA, Marks JA, Young H, Carnes MU, Guo Y, Waldrop A, Sey NYA, Landi MT, McNeil DW, Drichel D, Farrer LA, Markunas CA, Vink JM, Hottenga JJ, Iacono WG, Kranzler HR, Saccone NL, Neale MC, Madden P, Rietschel M, Marazita ML, McGue M, Won H, Winterer G, Grucza R, Dick DM, Gelernter J, Caporaso NE, Baker TB, Boomsma DI, Kaprio J, Hokanson JE, Vrieze S, Bierut LJ, Johnson EO, Hancock DB. Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. Nature Communications 2020, 11: 5562. PMID: 33144568, PMCID: PMC7642344, DOI: 10.1038/s41467-020-19265-z.Peer-Reviewed Original ResearchConceptsGenome-wide significant lociGenome-wide association studiesNearby gene expressionExpression of genesSmoking traitsGenetic architectureSignificant lociGenetic variationMultiple traitsGene expressionAssociation studiesLociTraitsGenetic knowledgeComposite phenotypeUK BiobankExpressionTENM2GNAI1GenesGeneticsVariantsPhenotype
2012
Genetic Association Test for Multiple Traits at Gene Level
Guo X, Liu Z, Wang X, Zhang H. Genetic Association Test for Multiple Traits at Gene Level. Genetic Epidemiology 2012, 37: 122-129. PMID: 23032486, PMCID: PMC3524409, DOI: 10.1002/gepi.21688.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesMultiple traitsGene levelSingle nucleotide polymorphismsGenetic association testsCommon genesAssociation studiesAssociation TestNucleotide polymorphismsTraitsStudy of AddictionComplex diseasesBiological mechanismsDisease of interestAssociation informationGenesGeneticsSuch studiesStrong evidencePolymorphismPrevious findingsLevels
2011
Identification problems in personality psychology
Borghans L, Golsteyn BH, Heckman J, Humphries JE. Identification problems in personality psychology. Personality And Individual Differences 2011, 51: 315-320. PMID: 21731170, PMCID: PMC3126096, DOI: 10.1016/j.paid.2011.03.029.Peer-Reviewed Original Research
2009
Phenotypic Integration Among Trabecular and Cortical Bone Traits Establishes Mechanical Functionality of Inbred Mouse Vertebrae*
Tommasini SM, Hu B, Nadeau JH, Jepsen KJ. Phenotypic Integration Among Trabecular and Cortical Bone Traits Establishes Mechanical Functionality of Inbred Mouse Vertebrae*. Journal Of Bone And Mineral Research 2009, 24: 606-620. PMID: 19063678, PMCID: PMC2659510, DOI: 10.1359/jbmr.081224.Peer-Reviewed Original ResearchConceptsQuantitative trait lociBody sizeBone traitsPhenotypic integrationTrait covariationComplex traitsTrait lociMultiple traitsGenetic analysisDifferent traitsEnvironmental perturbationsSkeletal traitsTrabecular traitsAXB/BXAC57BL/6J genomeRI panelNonrandom setTraitsCompensatory interactionsGenetic variantsAdaptive responseB6 genomeRelative amountsGenomeCompositional traits
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