2004
COMT haplotypes suggest P2 promoter region relevance for schizophrenia
Palmatier M, Pakstis A, Speed W, Paschou P, Goldman D, Odunsi A, Okonofua F, Kajuna S, Karoma N, Kungulilo S, Grigorenko E, Zhukova O, Bonne-Tamir B, Lu R, Parnas J, Kidd J, DeMille M, Kidd K. COMT haplotypes suggest P2 promoter region relevance for schizophrenia. Molecular Psychiatry 2004, 9: 859-870. PMID: 15098000, DOI: 10.1038/sj.mp.4001496.Peer-Reviewed Original Research
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