2002
Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation
DeMille M, Kidd JR, Ruggeri V, Palmatier MA, Goldman D, Odunsi A, Okonofua F, Grigorenko E, Schulz LO, Bonne-Tamir B, Lu RB, Parnas J, Pakstis AJ, Kidd KK. Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation. Human Genetics 2002, 111: 521-537. PMID: 12436243, DOI: 10.1007/s00439-002-0809-0.Peer-Reviewed Original ResearchConceptsRestriction site polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumNlaIII siteNon-African populationsOverall linkage disequilibriumAmino acid substitutionsRegulatory variationPopulation variationAllelic variationCandidate genesPromoter regionFunctional variationSite polymorphismCatechol-O-methyl transferaseAcid substitutionsFunctional variantsGenesNucleotide polymorphismsRegion variationNovel polymorphismsHaplotypesEnzyme activityMajor pathwayChromosome 22
1999
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles
Palmatier M, Kang A, Kidd K. Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles. Biological Psychiatry 1999, 46: 557-567. PMID: 10459407, DOI: 10.1016/s0006-3223(99)00098-0.Peer-Reviewed Original ResearchConceptsRestriction site polymorphismsSingle nucleotide polymorphismsAllele frequenciesDifferent population frequenciesControl allele frequenciesEnzyme activity levelsAncestral alleleCandidate genesPopulation-based association studyAssociation studiesSite polymorphismFirst global surveyNucleotide polymorphismsAllelesEnzyme activityPopulation frequencyPolymorphismDifferent populationsCOMT enzyme activityActivity alleleLow-activity alleleGenesProteinGlobal variationPopulation