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