2017
Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1
Smith AH, Jensen KP, Li J, Nunez Y, Farrer LA, Hakonarson H, Cook-Sather SD, Kranzler HR, Gelernter J. Genome-wide association study of therapeutic opioid dosing identifies a novel locus upstream of OPRM1. Molecular Psychiatry 2017, 22: 346-352. PMID: 28115739, PMCID: PMC5407902, DOI: 10.1038/mp.2016.257.Peer-Reviewed Original ResearchMeSH KeywordsAdultAllelesAnalgesics, OpioidBlack or African AmericanDose-Response Relationship, DrugFemaleGene FrequencyGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMethadoneMiddle AgedMorphineOpioid-Related DisordersPainPolymorphism, Single NucleotideReceptors, Opioid, muUnited StatesWhite PeopleConceptsMethadone doseOD subjectsOpioid dependenceSignificant associationDaily methadone doseMethadone maintenance doseOpioid analgesic doseDose of morphineHigher methadone doseDifferent clinical settingsΜ-opioid receptorAnalgesic doseMaintenance doseOral methadoneEffective analgesicSurgical painOpioid sensitivityPrecision pharmacotherapySelective agonistGenome-wide association studiesAA childrenClinical settingDoseMinor alleleOPRM1
2014
Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss
Haraksingh RR, Jahanbani F, Rodriguez-Paris J, Gelernter J, Nadeau KC, Oghalai JS, Schrijver I, Snyder MP. Exome sequencing and genome-wide copy number variant mapping reveal novel associations with sensorineural hereditary hearing loss. BMC Genomics 2014, 15: 1155. PMID: 25528277, PMCID: PMC4367882, DOI: 10.1186/1471-2164-15-1155.Peer-Reviewed Original ResearchConceptsHearing lossHereditary hearing lossExome sequencingSensorineural hearing lossType II myosinGenome-wide CNV analysisCase-control cohortNon-syndromic sensorineural hearing lossStrong candidate geneLoss patientsDirect clinical applicationGenetic diversityNovel lociClinical settingCytoskeletal proteinsCandidate genesCandidate lociVariants mappingDistinct familiesChromosome 16Loss phenotypeClinical applicationNovel regionLociCNV analysis