2017
Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers
Polimanti R, Jensen KP, Gelernter J. Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. Scientific Reports 2017, 7: 1034. PMID: 28432340, PMCID: PMC5430682, DOI: 10.1038/s41598-017-01098-4.Peer-Reviewed Original ResearchConceptsLoss symptomsElderly subjectsAge-related hearing lossPhenome-wide association studyElderly smokersCigarette smokingNovel phenotypic associationsCerebellar hemisphereAuditory functionDiscovery cohortHearing lossReplication cohortBrain regionsSignificant associationNicotine metabolismCYP2A6 expressionCYP2A6 allelesMember 6Association studiesSmokingCohortSymptomsAssociationRegulatory roleInvolvement
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 3Population