2018
Local 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 ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2016
Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits
Polimanti R, Yang BZ, Zhao H, Gelernter J. Evidence of Polygenic Adaptation in the Systems Genetics of Anthropometric Traits. PLOS ONE 2016, 11: e0160654. PMID: 27537407, PMCID: PMC4990182, DOI: 10.1371/journal.pone.0160654.Peer-Reviewed Original ResearchConceptsPolygenic adaptationNatural selectionSystems geneticsProtein interaction networksWide association studyPolygenic mechanismsEuropean populationsPolygenic selectionAnthropometric traitsGene networksHuman genomeEpistatic interactionsInteraction networksEnrichment analysisGenetic signaturesSystems biologyAssociation studiesLipid transportMolecular processesAdaptation signalsLocomotory behaviorTraitsSelective mechanismGeneticsInfection resistance
2000
Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence
Zabetian C, Gelernter J, Cubells J. Functional variants at CYP2A6: New genotyping methods, population genetics, and relevance to studies of tobacco dependence. American Journal Of Medical Genetics 2000, 96: 638-645. PMID: 11054771, DOI: 10.1002/1096-8628(20001009)96:5<638::aid-ajmg9>3.0.co;2-r.Peer-Reviewed Original ResearchMeSH KeywordsAllelesAryl Hydrocarbon HydroxylasesBase SequenceCytochrome P-450 CYP2A6Cytochrome P-450 Enzyme SystemDNAGene FrequencyGenetic VariationGenetics, PopulationGenotypeHumansMixed Function OxygenasesPolymorphism, GeneticSequence Analysis, DNASequence Homology, Nucleic AcidTobacco Use DisorderConceptsTobacco dependenceMetabolism of nicotineCYP2A6CYP2A6 allelesGenotype resultsNull variantsPopulation studiesLow allele frequenciesRestriction enzyme digestionGenetic association studiesPredominant enzymeFunctional variantsExon 4Future genetic association studiesNew genotyping methodAllele frequenciesEuropean populationsExon 3PopulationVariant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence
Gelernter J, Kranzler H. Variant detection at the δ opioid receptor (OPRD1) locus and population genetics of a novel variant affecting protein sequence. Human Genetics 2000, 107: 86-88. PMID: 10982041, DOI: 10.1007/s004390000340.Peer-Reviewed Original ResearchConceptsPopulation geneticsProtein sequencesPopulation genetic dataAmino acid sequenceNovel variantsΔ locusAcid sequenceGenetic dataReceptor locusExon 1LociReceptor geneOpioid receptor geneCommon variantsEuropean populationsAllele frequenciesGeneticsVariant detectionSequenceAllelesOpioid dependenceVariantsPhysiologic effectsG alleleSubstance dependence