2024
T32. GENETIC ARCHITECTURE OF BIPOLAR SPECTRUM DISORDERS IN NEARLY 102,000 LATINO ANCESTRY INDIVIDUALS
Bigdeli T, Voloudakis G, Chatzinakos C, Barr P, Gorman B, Peterson R, Pyarajan S, Huang G, Gaziano M, Pato M, Fanous A, Pato C, Aslan M, Roussos P, Harvey P. T32. GENETIC ARCHITECTURE OF BIPOLAR SPECTRUM DISORDERS IN NEARLY 102,000 LATINO ANCESTRY INDIVIDUALS. European Neuropsychopharmacology 2024, 87: 173-174. DOI: 10.1016/j.euroneuro.2024.08.342.Peer-Reviewed Original ResearchGenome-wide association studiesPolygenic risk scoresEuropean ancestryMillion Veteran ProgramAdmixed AmericansGenomic Psychiatry CohortGenome-wide association study analysisGenome-wide significant signalsMulti-ancestry meta-analysisLocal ancestry inferenceStatistical fine-mappingBipolar disorderCooperative Studies ProgramGenomic structural equation modelingLatino individualsAncestry inferencePRS-CSxTrans-diagnostic approachBipolar spectrum disordersEast Asian populationsFine-mappingAssociation studiesGWAS statisticsPsychiatric genetic researchAncestry individualsGenetic polymorphisms associated with adverse pregnancy outcomes in nulliparas
Khan R, Guerrero R, Wapner R, Hahn M, Raja A, Salleb-Aouissi A, Grobman W, Simhan H, Silver R, Chung J, Reddy U, Radivojac P, Pe’er I, Haas D. Genetic polymorphisms associated with adverse pregnancy outcomes in nulliparas. Scientific Reports 2024, 14: 10514. PMID: 38714721, PMCID: PMC11076516, DOI: 10.1038/s41598-024-61218-9.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAdverse pregnancy outcomesMulti-ancestry genome-wide association studyCluster of SNPsGestational diabetesPregnancy outcomesAdmixed AmericansNovel lociPregnancy lossAssociation studiesGenetic markersIncreased risk of pregnancy lossTRMU geneGenetic ancestryAssociated with gestational diabetesRisk of pregnancy lossSub-cohortProportion of pregnanciesCause of morbidityLociAssociation TestSNPsPreterm birthMaternal riskIncreased risk
2023
Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data
Quintero Reis A, Newton B, Kessler R, Polimanti R, Wendt F. Functional and molecular characterization of suicidality factors using phenotypic and genome-wide data. Molecular Psychiatry 2023, 28: 1064-1071. PMID: 36604601, PMCID: PMC10005939, DOI: 10.1038/s41380-022-01929-5.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPolygenic scoringSummary association dataGenome-wide dataSNP effect sizesGenomic structural equation modelingGenetic study designsNew traitsAdmixed AmericansEffect size distributionBiological pathwaysAssociation studiesTranscriptomic featuresMolecular characterizationSusceptibility lociGenetic correlationsAssociation dataWide dataTraitsGenetic contributionEuropean ancestryCommon genetic factorsLociPhenotypeGenetic factors
2022
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes
Mestiri S, Boussetta S, Pakstis AJ, Kamel S, Gaaied A, Kidd KK, Cherni L. New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes. Molecular Genetics & Genomic Medicine 2022, 10: e1871. PMID: 35128830, PMCID: PMC8922960, DOI: 10.1002/mgg3.1871.Peer-Reviewed Original ResearchConceptsNorth African populationsSingle nucleotide polymorphismsGenetic diversityGenetic variabilitySignificant gene flowHuman genetic diversityLowest average heterozygosityAfrican populationsGene flowEvolutionary forcesGenetic structureAverage heterozygosityAdmixed AmericansChromosome 3NRG1 geneChromosome 8Genetic relationshipsGenesDomain 1Nucleotide polymorphismsSushi multiple domains 1CSMD1 geneHaplotypic analysisWorldwide populationNew insights
2018
BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia
de Smith AJ, Walsh KM, Francis SS, Zhang C, Hansen HM, Smirnov I, Morimoto L, Whitehead TP, Kang A, Shao X, Barcellos LF, McKean‐Cowdin R, Zhang L, Fu C, Wang R, Yu H, Hoh J, Dewan AT, Metayer C, Ma X, Wiemels JL. BMI1 enhancer polymorphism underlies chromosome 10p12.31 association with childhood acute lymphoblastic leukemia. International Journal Of Cancer 2018, 143: 2647-2658. PMID: 29923177, PMCID: PMC6235695, DOI: 10.1002/ijc.31622.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultCaliforniaCell Cycle ProteinsChildChromosome MappingChromosomes, Human, Pair 10Core Binding Factor Alpha 1 SubunitEnhancer Elements, GeneticFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansK562 CellsLinkage DisequilibriumLogistic ModelsMalePhosphotransferases (Alcohol Group Acceptor)Polycomb Repressive Complex 1Polymorphism, Single NucleotidePrecursor Cell Lymphoblastic Leukemia-LymphomaTrans-ActivatorsYoung AdultConceptsFunctional variantsSingle nucleotide polymorphism (SNP) imputationGenome-wide significant associationGenome-wide association studiesStem cell enhancerPutative functional variantsChIP-seq dataRegion of associationGenetic Epidemiology ResearchChromosome 10p12Transcription factorsAdmixed AmericansCell enhancerLead SNPAssociation studiesSNP associationsAssociation analysisLinkage disequilibriumBMI1SNPsTight linkage disequilibriumPIP4K2APreferential bindingRisk allelesVariants
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