2025
Psychiatric genetics in the diverse landscape of Latin American populations
Bruxel E, Rovaris D, Belangero S, Chavarría-Soley G, Cuellar-Barboza A, Martínez-Magaña J, Nagamatsu S, Nievergelt C, Núñez-Ríos D, Ota V, Peterson R, Sloofman L, Adams A, Albino E, Alvarado A, Andrade-Brito D, Arguello-Pascualli P, Bandeira C, Bau C, Bulik C, Buxbaum J, Cappi C, Corral-Frias N, Corrales A, Corsi-Zuelli F, Crowley J, Cupertino R, da Silva B, De Almeida S, De la Hoz J, Forero D, Fries G, Gelernter J, González-Giraldo Y, Grevet E, Grice D, Hernández-Garayua A, Hettema J, Ibáñez A, Ionita-Laza I, Lattig M, Lima Y, Lin Y, López-León S, Loureiro C, Martínez-Cerdeño V, Martínez-Levy G, Melin K, Moreno-De-Luca D, Muniz Carvalho C, Olivares A, Oliveira V, Ormond R, Palmer A, Panzenhagen A, Passos-Bueno M, Peng Q, Pérez-Palma E, Prieto M, Roussos P, Sanchez-Roige S, Santamaría-García H, Shansis F, Sharp R, Storch E, Tavares M, Tietz G, Torres-Hernández B, Tovo-Rodrigues L, Trelles P, Trujillo-ChiVacuan E, Velásquez M, Vera-Urbina F, Voloudakis G, Wegman-Ostrosky T, Zhen-Duan J, Zhou H, Santoro M, Nicolini H, Atkinson E, Giusti-Rodríguez P, Montalvo-Ortiz J. Psychiatric genetics in the diverse landscape of Latin American populations. Nature Genetics 2025, 57: 1074-1088. PMID: 40175716, PMCID: PMC12133068, DOI: 10.1038/s41588-025-02127-z.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPsychiatric genomicsPsychiatric genome-wide association studiesLarge-scale genome-wide association studiesGenetic risk lociNon-European populationsGenetic diversityRisk lociGenetic admixtureBurden of psychiatric disordersAssociation studiesPsychiatric disordersEuropean ancestryPsychiatric geneticsGenomeHealthcare disparitiesConsortium effortLatin American populationsPromote equityEnvironmental factorsDiversityAmerican populationDiverse landscapeLociAncestry
2024
MA08.12 Semi-Sold Lung Nodule Growth Rates, Need for Treatment, and Cancer-Specific Verses All-Cause Mortality in a Large North American Population
Woodard G, Kane E, Prince S, Blasberg J, Dhanasopon A, Boffa D, Mase V, Dacic S, Bader A, Detterbeck F. MA08.12 Semi-Sold Lung Nodule Growth Rates, Need for Treatment, and Cancer-Specific Verses All-Cause Mortality in a Large North American Population. Journal Of Thoracic Oncology 2024, 19: s87. DOI: 10.1016/j.jtho.2024.09.156.Peer-Reviewed Original ResearchGenome-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
2020
The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders
Nuñez-Rios D, Chaskel R, Lopez A, Galeano L, Lattig M. The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders. PLOS ONE 2020, 15: e0235512. PMID: 32614901, PMCID: PMC7332001, DOI: 10.1371/journal.pone.0235512.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderExtracellular serotonin levelsIdiopathic autism spectrum disorderPsychiatric disordersSerotonin levelsSymptom severityLatin American populationsGenetic studiesAllele frequenciesAmerican populationMeta-analysisFunctional roleGenotypic variabilityDisordersPolymorphismColombian individualsAutismComplex disorderLatin American individualsASD riskCaucasian populationAmerican individualsNon-associativeShort/long
2019
Population relationships based on 170 ancestry SNPs from the combined Kidd and Seldin panels
Pakstis AJ, Speed WC, Soundararajan U, Rajeevan H, Kidd JR, Li H, Kidd KK. Population relationships based on 170 ancestry SNPs from the combined Kidd and Seldin panels. Scientific Reports 2019, 9: 18874. PMID: 31827153, PMCID: PMC6906462, DOI: 10.1038/s41598-019-55175-x.Peer-Reviewed Original ResearchConceptsGenetic diversityPopulation relationshipsHuman populationAncestry informative SNP panelsInformative SNP panelsMajor continental regionsHuman reference populationsSNP panelIndividual populationsGenotype dataReference populationNative American populationsDiverse collectionAISNPsAllele frequency databasesWorldwide populationDiversityFrequency databaseAmerican populationReference population dataPopulationSNPsPrincipal component analysisCombined panelCluster patternsVariation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico
Gonzalez-Covarrubias V, Morales-Franco M, Cruz-Correa OF, Martínez-Hernández A, García-Ortíz H, Barajas-Olmos F, Genis-Mendoza AD, Martínez-Magaña JJ, Nicolini H, Orozco L, Soberón X. Variation in Actionable Pharmacogenetic Markers in Natives and Mestizos From Mexico. Frontiers In Pharmacology 2019, 10: 1169. PMID: 31649539, PMCID: PMC6796793, DOI: 10.3389/fphar.2019.01169.Peer-Reviewed Original ResearchMajor continental groupsContinental groupsAllele frequenciesWide genetic variabilityNovel variationGenetic variabilityActionable pharmacogenetic variantsPharmacogenetic variantsGenesNovel SNVsFunctional impactNGS dataPharmacogenomic impactPharmacogenomics Knowledge BaseSequencing filesPharmacogenetic variationSNVsVariantsPharmacogenesAmerican populationActionable variantsPROVEANNativesFATHMMVariationA Mechanistic Model of Gut–Brain Axis Perturbation and High-Fat Diet Pathways to Gut Microbiome Homeostatic Disruption, Systemic Inflammation, and Type 2 Diabetes
Lew K, Starkweather A, Cong X, Judge M. A Mechanistic Model of Gut–Brain Axis Perturbation and High-Fat Diet Pathways to Gut Microbiome Homeostatic Disruption, Systemic Inflammation, and Type 2 Diabetes. Biological Research For Nursing 2019, 21: 384-399. PMID: 31113222, DOI: 10.1177/1099800419849109.Peer-Reviewed Original ResearchConceptsGut-brain axisGut-brain axis pathwayHigh-fat dietDNA sequencing technologiesPro-inflammatory pathwaysMechanistic modelSequencing technologiesGut microbiomeHuman microbiomeHomeostatic disruptionProgression of T2DInsulin resistanceNonmodifiable risk factorsSystemic inflammationGutHigh-fatMicrobiomePathwayHomeostatic imbalanceMetabolic diseasesRisk factorsLow-grade systemic inflammationAmerican populationTranslocation of endotoxinWall permeabilityInterventions to Reduce Ethnic and Racial Disparities in Dyslipidemia Management
Chang A, Abou-Arraj N, Rodriguez F. Interventions to Reduce Ethnic and Racial Disparities in Dyslipidemia Management. Current Treatment Options In Cardiovascular Medicine 2019, 21: 24. PMID: 31065884, DOI: 10.1007/s11936-019-0725-4.Peer-Reviewed Original ResearchPhase of careAssociated with disparitiesRisk factor modificationControl of dyslipidemiaEthnic minority groupsMultidisciplinary treatment teamImproving clinical endpointsRacial/ethnic disparitiesScreening practicesDyslipidemia diagnosisTreatment cascadeRacial disparitiesPatient awarenessFactor modificationTreatment teamTargeted risk assessmentReduce inequalitiesMinority groupsNative American populationsDisparitiesInterventionCardiovascular riskAmerican populationCareCardiovascular outcomes
2017
The Uniform Pattern of Growth and Skeletal Maturation during the Human Adolescent Growth Spurt
Sanders JO, Qiu X, Lu X, Duren DL, Liu RW, Dang D, Menendez ME, Hans SD, Weber DR, Cooperman DR. The Uniform Pattern of Growth and Skeletal Maturation during the Human Adolescent Growth Spurt. Scientific Reports 2017, 7: 16705. PMID: 29196711, PMCID: PMC5711808, DOI: 10.1038/s41598-017-16996-w.Peer-Reviewed Original ResearchConceptsAdolescent growth spurtFinal heightGrowth spurtHealthy childrenSkeletal maturityPeak height velocityLongitudinal PopulationPeak Height Velocity TimingSkeletal maturationHeight velocityGrowth patternChild growthLongitudinal studyChildrenAdolescent growthFuture studiesAgeSpurtAmerican populationIndividual childrenDifferent agesSimilar patternNorth American populations
2015
Million Veteran Program: A mega-biobank to study genetic influences on health and disease
Gaziano JM, Concato J, Brophy M, Fiore L, Pyarajan S, Breeling J, Whitbourne S, Deen J, Shannon C, Humphries D, Guarino P, Aslan M, Anderson D, LaFleur R, Hammond T, Schaa K, Moser J, Huang G, Muralidhar S, Przygodzki R, O'Leary TJ. Million Veteran Program: A mega-biobank to study genetic influences on health and disease. Journal Of Clinical Epidemiology 2015, 70: 214-223. PMID: 26441289, DOI: 10.1016/j.jclinepi.2015.09.016.Peer-Reviewed Original ResearchConceptsMillion Veteran ProgramVeterans Affairs Health Care SystemObservational cohort studyVA electronic health recordVeteran ProgramHealth care deliverySelf-reported raceHealth care systemElectronic health recordsCohort studyAfrican American populationBlood samplesPeer-reviewed research studiesCare deliveryClinical decisionGenetic testingStudy designRecruiting sitesCare systemHealth recordsMost participantsPrecision medicineGenetic influencesAmerican populationParticipants
2013
An historical perspective on “The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus”
Kidd KK, Pakstis AJ, Yun L. An historical perspective on “The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus”. Human Genetics 2013, 133: 431-433. PMID: 24162668, DOI: 10.1007/s00439-013-1386-0.Peer-Reviewed Original ResearchConceptsThousands of lociGene frequency patternsPatterns of divergenceRandom genetic driftHuman population geneticsLow-frequency allelesDopamine D4 receptor locusGenetic driftPopulation geneticsImportant genesPopulation variationWorld-wide distributionReceptor locusFrequency allelesDifferent allelesLociDistinct populationsNative American populationsEast Asian populationsAllelesAllele frequenciesSame populationAmerican populationGenesGenetics
2012
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2011
Single nucleotide polymorphisms and haplotypes in Native American populations
Kidd JR, Friedlaender F, Pakstis AJ, Furtado M, Fang R, Wang X, Nievergelt CM, Kidd KK. Single nucleotide polymorphisms and haplotypes in Native American populations. American Journal Of Biological Anthropology 2011, 146: 495-502. PMID: 21913176, PMCID: PMC3658315, DOI: 10.1002/ajpa.21560.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsNative American populationsAutosomal markersModern Native American populationsNucleotide polymorphismsOld World populationsEvolutionary relationshipsAmerican populationDifferent small setsDNA polymorphismsEurasian originAncestry inferenceMultiple populationsPolymorphismLarge comprehensive datasetAscertainment biasesNew WorldSmall independent setsMarkersComprehensive datasetClose relationshipPopulationHaplotypesNew information
2008
Substance dependence low-density whole genome association study in two distinct American populations
Yu Y, Kranzler HR, Panhuysen C, Weiss RD, Poling J, Farrer LA, Gelernter J. Substance dependence low-density whole genome association study in two distinct American populations. Human Genetics 2008, 123: 495. PMID: 18438686, PMCID: PMC3428017, DOI: 10.1007/s00439-008-0501-0.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphism (SNP) markersWhole-genome association studiesFuture candidate gene studiesGenome association studiesCandidate gene studiesPotential biological relevancePolymorphism markersGenetic basisAssociation studiesGenetic markersHigh heritabilityGene studiesCocaine-induced paranoiaBiological relevanceGenesComplex disorderNew hypothesisFamilyAmerican populationGeneticsHeritabilityMarkers
2002
Exercise Effect on Body Weight in Postmenopausal Women: The Physical Activity for Total Health Study
Irwin M, McTiernan A. Exercise Effect on Body Weight in Postmenopausal Women: The Physical Activity for Total Health Study. Medical Science Symposia Series 2002, 17: 345-352. DOI: 10.1007/978-1-4615-1061-1_41.Peer-Reviewed Original ResearchTotal Health studyPrevalence of overweightAdult American populationObese 1Postmenopausal womenObesity comorbiditiesCardiovascular diseasePhysical activitySedentary lifestyleHealth StudyBody weightOlder personsCertain cancersOverweightObesityPrevalenceLevel 4American populationHypertensionComorbiditiesDiabetesStrokeCancerDiseaseWomenLIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION
Morotti R, Tata M, Drut R, Siminovich S, Menezes D, Gutierrez M, Kahn E. LIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION. Fetal And Pediatric Pathology 2002, 21: 79-87. DOI: 10.1080/pdp.21.1.79.87.Peer-Reviewed Original ResearchSA childrenGiant cell transformationTime of deathCases of childrenCytomegalovirus infectionPeliosis hepatisImmunodeficiency syndromeLymphoproliferative disordersOpportunistic infectionsPediatric hospitalHepatic changesLiver pathologyRapid progressionHigh prevalenceNA groupLiver tissueChildrenInfectionAIDSAmerican populationCell transformationNorth American populationsHepatisHistopathologicInflammationLIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION
Morotti R, Tata M, Drut R, Siminovich S, Menezes D, Gutierrez M, Kahn E. LIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION. Fetal And Pediatric Pathology 2002, 21: 79-87. DOI: 10.1080/15227950252774200.Peer-Reviewed Original Research
2001
Human GABAB receptor 1 gene: Eight novel sequence variants
Hisama F, Gruen J, Choi J, Huseinovic M, Grigorenko E, Pauls D, Mattson R, Gelernter J, Wood F, Goei V. Human GABAB receptor 1 gene: Eight novel sequence variants. Human Mutation 2001, 17: 349-350. PMID: 11295833, DOI: 10.1002/humu.34.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 6DNA Mutational AnalysisDNA PrimersExonsGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHumansIntronsMental DisordersMutationMutation, MissensePolymorphism, GeneticPolymorphism, Restriction Fragment LengthPolymorphism, Single-Stranded ConformationalReceptors, GABA-BUnited StatesConceptsNeurobehavioral disordersPrincipal inhibitory neurotransmitterHuman leukocyte antigen (HLA) regionInhibitory neurotransmitterPharmacogenetic studiesGene mutationsAntigen regionIntron variantsMissense mutationsDistinct mutationsDisordersLinkage studiesReceptor mapsAmerican populationGABBR1MutationsSusceptibility regionsEpilepsyCandidate genesDNA variantsGABANeurotransmittersSchizophreniaBrainPreoperative Evaluation of the Elderly Surgical Patient
Gabeau D, Rosenthal R. Preoperative Evaluation of the Elderly Surgical Patient. 2001, 126-143. DOI: 10.1007/978-1-4757-3432-4_10.Peer-Reviewed Original ResearchLIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION
Morotti R, Tata M, Drut R, Siminovich S, Menezes D, Guitierrez M, Kahn E. LIVER PATHOLOGY IN CHILDREN WITH AIDS: A COMPARISON BETWEEN THE SOUTH AMERICAN AND NORTH AMERICAN POPULATION. Fetal And Pediatric Pathology 2001, 20: 537-545. PMID: 11699578, DOI: 10.1080/pdp.20.6.537.545.Peer-Reviewed Original ResearchConceptsSA childrenGiant cell transformationTime of deathCases of childrenPeliosis hepatisCytomegalovirus infectionLymphoproliferative disordersOpportunistic infectionsHepatic changesPediatric hospitalLiver pathologyRapid progressionHigh prevalenceNA groupLiver tissueAIDSChildrenInfectionAmerican populationCell transformationNorth American populationsHepatisHistopathologicInflammationGroup
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