1999
Population studies of polymorphisms of the serotonin transporter protein gene
Gelernter J, Cubells JF, Kidd JR, Pakstis AJ, Kidd KK. Population studies of polymorphisms of the serotonin transporter protein gene. American Journal Of Medical Genetics 1999, 88: 61-66. PMID: 10050969, DOI: 10.1002/(sici)1096-8628(19990205)88:1<61::aid-ajmg11>3.0.co;2-k.Peer-Reviewed Original ResearchConceptsAllele frequency variationImportant genetic variationTransporter protein geneSerotonin transporter protein geneProtein lociGenetic variationProtein geneAssociation studiesFunctional significancePopulation stratificationDepression-related phenotypesAllele frequenciesHaplotype frequenciesLociPolymorphismSLC6A4 polymorphismsGenesGlobal variationVNTR polymorphismPhenotypeDisequilibriumPopulationVariationPromoter polymorphismPopulation studies
1998
DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects
Gelernter J, Kranzler H, Cubells JF, Ichinose H, Nagatsu T. DRD2 Allele Frequencies and Linkage Disequilibria, Including the -141CIns/DelPromoter Polymorphism, in European-American, African-American, and Japanese Subjects. Genomics 1998, 51: 21-26. PMID: 9693029, DOI: 10.1006/geno.1998.5264.Peer-Reviewed Original ResearchConceptsLinkage disequilibriumFunctional variantsSignificant linkage disequilibriumMutational analysis studiesFirst intronKb 5Linkage disequilibriaFrequencies of haplotypesPopulation stratificationGenetic associationDrd2 promoterPhysiological basisAllele frequenciesPhysiological relationshipGenesReceptor allelesEuropean-American subjectsD2 dopamine receptor (DRD2) allelesDisequilibriumBehavioral phenotypesPhenotypeFunctional meaningEuropean originVariantsAmerican population