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
2018
Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls
Pettersson E, Lichtenstein P, Larsson H, Song J, Agrawal A, Børglum A, Bulik C, Daly M, Davis L, Demontis D, Edenberg H, Grove J, Gelernter J, Neale B, Pardiñas A, Stahl E, Walters J, Walters R, Sullivan P, Posthuma D, Polderman T. Genetic influences on eight psychiatric disorders based on family data of 4 408 646 full and half-siblings, and genetic data of 333 748 cases and controls. Psychological Medicine 2018, 49: 1166-1173. PMID: 30221610, PMCID: PMC6421104, DOI: 10.1017/s0033291718002039.Peer-Reviewed Original ResearchMeSH KeywordsAdultAlcoholismAnorexia NervosaAttention Deficit Disorder with HyperactivityAutism Spectrum DisorderBipolar DisorderCase-Control StudiesCohort StudiesDepressive Disorder, MajorFamilyFemaleGene-Environment InteractionGenotypeHumansMaleMental DisordersObsessive-Compulsive DisorderQuantitative Trait, HeritableSchizophreniaSchizophrenic PsychologySiblingsSwedenLocal adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchMeSH KeywordsAdaptation, PhysiologicalBehaviorGenome-Wide Association StudyHumansMental DisordersMultifactorial InheritanceQuantitative Trait, HeritableRisk FactorsWhite PeopleConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2003
The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity
Zabetian CP, Buxbaum SG, Elston RC, Köhnke MD, Anderson GM, Gelernter J, Cubells JF. The Structure of Linkage Disequilibrium at the DBH Locus Strongly Influences the Magnitude of Association between Diallelic Markers and Plasma Dopamine β-Hydroxylase Activity. American Journal Of Human Genetics 2003, 72: 1389-1400. PMID: 12730829, PMCID: PMC1180300, DOI: 10.1086/375499.Peer-Reviewed Original ResearchConceptsQuantitative trait lociHuman genomeDBH locusLow haplotype diversityTotal phenotypic varianceLarge-scale association studiesLinkage disequilibrium mappingDiallelic markersPutative functional polymorphismsComplex traitsHaplotype diversityGenomewide scaleObserved chromosomesHaplotype mapPhenotypic varianceGenomewide basisDegree of LDAssociation studiesDisequilibrium mappingUpstream regionHaplotype blocksLinkage disequilibriumLociDistinct populationsGenome
2001
A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus
Zabetian C, Anderson G, Buxbaum S, Elston R, Ichinose H, Nagatsu T, Kim K, Kim C, Malison R, Gelernter J, Cubells J. A Quantitative-Trait Analysis of Human Plasma–Dopamine β-Hydroxylase Activity: Evidence for a Major Functional Polymorphism at the DBH Locus. American Journal Of Human Genetics 2001, 68: 515-522. PMID: 11170900, PMCID: PMC1235285, DOI: 10.1086/318198.Peer-Reviewed Original ResearchConceptsQuantitative trait lociMajor quantitative trait locusMajor genetic markerH activityQuantitative trait analysisStructural geneGenotype/phenotype correlationMutational analysisExtreme phenotypesGenetic markersDBH geneHuman diseasesGenesDBH locusNovel polymorphismsCodominant inheritancePhenotype correlationUnidentified polymorphismsLociPlasma dopamine β-hydroxylase activityΒ-hydroxylase activityPolymorphismFunctional polymorphismsBeta HMajor functional polymorphisms
1998
Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation
Cubells J, van Kammen D, Kelley M, Anderson G, O’Connor D, Price LH, Malison R, Rao P, Kobayashi K, Nagatsu T, Gelernter J. Dopamine β-hydroxylase: two polymorphisms in linkage disequilibrium at the structural gene DBH associate with biochemical phenotypic variation. Human Genetics 1998, 102: 533-540. PMID: 9654201, DOI: 10.1007/s004390050736.Peer-Reviewed Original Research