2023
Epigenomic charting and functional annotation of risk loci in renal cell carcinoma
Nassar A, Abou Alaiwi S, Baca S, Adib E, Corona R, Seo J, Fonseca M, Spisak S, El Zarif T, Tisza V, Braun D, Du H, He M, Flaifel A, Alchoueiry M, Denize T, Matar S, Acosta A, Shukla S, Hou Y, Steinharter J, Bouchard G, Berchuck J, O’Connor E, Bell C, Nuzzo P, Mary Lee G, Signoretti S, Hirsch M, Pomerantz M, Henske E, Gusev A, Lawrenson K, Choueiri T, Kwiatkowski D, Freedman M. Epigenomic charting and functional annotation of risk loci in renal cell carcinoma. Nature Communications 2023, 14: 346. PMID: 36681680, PMCID: PMC9867739, DOI: 10.1038/s41467-023-35833-5.Peer-Reviewed Original ResearchConceptsMaster transcription factorChIP-seqATAC-seq dataH3K27ac ChIP-seqCcRCC cell linesEpigenomic atlasATAC-seqFunctional annotationTranscriptional landscapePrimary human samplesTranscription factorsRNA-seqRisk lociTranscriptional upregulationSNP arrayRisk SNPsETS-1EpigenomeCell linesFOXI1Renal cell carcinomaEPAS1RCC histologic subtypesHuman samplesBHLHE41
2018
Association of genetic variation in COMT gene with pain related to sickle cell disease in patients from the walk-PHaSST study
Zhang Y, Belfer I, Nouraie M, Zeng Q, Goel R, Chu Y, Krasiy I, Krishnamurti L. Association of genetic variation in COMT gene with pain related to sickle cell disease in patients from the walk-PHaSST study. Journal Of Pain Research 2018, 11: 537-543. PMID: 29559808, PMCID: PMC5856032, DOI: 10.2147/jpr.s149958.Peer-Reviewed Original ResearchVaso-occlusive pain episodesSickle cell diseasePain perceptionSCD patientsCell diseaseAfrican American SCD patientsVariability of painEmergency room visitsHealth care utilizationSelf-reported painPain episodesAcute painCare utilizationRoom visitsSS patientsFunctional variantsPainPatientsPsychological covariatesDisease biologyCOMT geneDiseaseRisk SNPsWomenCorresponding haplotypes
2017
Genome-wide significant, replicated and functional risk variants for Alzheimer’s disease
Guo X, Qiu W, Garcia-Milian R, Lin X, Zhang Y, Cao Y, Tan Y, Wang Z, Shi J, Wang J, Liu D, Song L, Xu Y, Wang X, Liu N, Sun T, Zheng J, Luo J, Zhang H, Xu J, Kang L, Ma C, Wang K, Luo X. Genome-wide significant, replicated and functional risk variants for Alzheimer’s disease. Journal Of Neural Transmission 2017, 124: 1455-1471. PMID: 28770390, PMCID: PMC5654670, DOI: 10.1007/s00702-017-1773-0.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesNon-coding RNAsRisk variantsRisk genesProtein-coding genesProtein-coding RNAsLong non-coding RNAsFunctional risk variantsPotential biological functionsAD-related pathwaysExpression of piRNAsAlterations of proteinsGenomic regionsExpression correlationBiological functionsProtein structureAssociation studiesMetabolism pathwaysLipoprotein metabolism pathwaysRisk SNPsGenesSNPsPiRNAsRNARegulatory effectsTranscriptome-wide piRNA profiling in human brains of Alzheimer's disease
Qiu W, Guo X, Lin X, Yang Q, Zhang W, Zhang Y, Zuo L, Zhu Y, Li CR, Ma C, Luo X. Transcriptome-wide piRNA profiling in human brains of Alzheimer's disease. Neurobiology Of Aging 2017, 57: 170-177. PMID: 28654860, PMCID: PMC5542056, DOI: 10.1016/j.neurobiolaging.2017.05.020.Peer-Reviewed Original Research
2015
Genome-wide significant risk associations for mucinous ovarian carcinoma
Kelemen L, Lawrenson K, Tyrer J, Li Q, Lee J, Seo J, Phelan C, Beesley J, Chen X, Spindler T, Aben K, Anton-Culver H, Antonenkova N, Baker H, Bandera E, Bean Y, Beckmann M, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chen Y, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Dansonka-Mieszkowska A, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Dürst M, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Engelholm S, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Grownwald J, Harrington P, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Iversen E, Jakubowska A, Jensen A, Ji B, Karlan B, Kellar M, Kelley J, Kiemeney L, Krakstad C, Kjaer S, Kupryjanczyk J, Lambrechts D, Lambrechts S, Le N, Lee A, Lele S, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, McNeish I, Menon U, Modugno F, Moes-Sosnowska J, Moysich K, Narod S, Nedergaard L, Ness R, Nevanlinna H, Adenan N, Odunsi K, Olson S, Orlow I, Orsulic S, Weber R, Paul J, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Schildkraut J, Schwaab I, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Tworoger S, van Altena A, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Sawicki W, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Sellers T, Freedman M, Chenevix-Trench G, Pharoah P, Gayther S, Berchuck A. Genome-wide significant risk associations for mucinous ovarian carcinoma. Nature Genetics 2015, 47: 888-897. PMID: 26075790, PMCID: PMC4520768, DOI: 10.1038/ng.3336.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinoma, MucinousBase SequenceCell Line, TumorCell NucleusChromosomes, Human, Pair 2FemaleGene Expression Regulation, NeoplasticGenetic Association StudiesGenetic Predisposition to DiseaseGenome-Wide Association StudyGreen Fluorescent ProteinsHomeodomain ProteinsHumansMicroscopy, FluorescenceMolecular Sequence DataNeoplasm ProteinsOvarian NeoplasmsPolymorphism, Single NucleotideQuantitative Trait LociReverse Transcriptase Polymerase Chain ReactionRisk Factors
2014
SP0104 The Molecular Basis of Autoimmune Disease
Hafler D. SP0104 The Molecular Basis of Autoimmune Disease. Annals Of The Rheumatic Diseases 2014, 73: 27-28. DOI: 10.1136/annrheumdis-2014-eular.6254.Peer-Reviewed Original ResearchGenome-wide association studiesNon-coding regionsConsensus transcription factorNumerous genetic associationsDistinct cell typesDifferent autoimmune diseasesAutoimmune diseasesChromatin mapsTh17 cellsGWAS hitsHigh NaCl levelsTranscription factorsDNA sequencesMolecular basisGenetic dataCausal mutationsDisease riskAssociation studiesMechanistic basisCommon SNPsNucleotide variantsAP-1Risk SNPsCell typesSpecific disruption
2013
NKAIN1–SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent
Zuo L, Wang K, Zhang XY, Krystal JH, Li CS, Zhang F, Zhang H, Luo X. NKAIN1–SERINC2 is a functional, replicable and genome-wide significant risk gene region specific for alcohol dependence in subjects of European descent. Drug And Alcohol Dependence 2013, 129: 254-264. PMID: 23455491, PMCID: PMC3628730, DOI: 10.1016/j.drugalcdep.2013.02.006.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesExpression quantitative loci (eQTL) analysisGene regionMetabolic pathwaysQuantitative loci analysisSNP-expression associationsCis-acting regulatory effectsDiscovery sampleSNP-disease associationsNumerous genesReplication sampleLocus analysisAssociation studiesAssociation analysisRisk SNPsTranscript expressionSNPsRegulatory effectsGenesPathwayEuropean descentExpression
2012
Genome‐wide search for replicable risk gene regions in alcohol and nicotine co‐dependence
Zuo L, Zhang F, Zhang H, Zhang X, Wang F, Li C, Lu L, Hong J, Lu L, Krystal J, Deng H, Luo X. Genome‐wide search for replicable risk gene regions in alcohol and nicotine co‐dependence. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2012, 159B: 437-444. PMID: 22488850, PMCID: PMC3405545, DOI: 10.1002/ajmg.b.32047.Peer-Reviewed Original ResearchConceptsChromosome 3Genome-wide false discovery rateGene regionFalse discovery rateGenome-wide association analysisExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisRisk SNPsTranscript expressionGenome-wide association strategyGenome-wide searchCombined P valueSNP-disease associationsAssociation peakGenomic regionsEQTL analysisEuropean American casesCausal lociLocus analysisGene expressionAssociation analysisGenesSNPsRegulatory effectsDiscovery rate
2011
Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q
Zuo L, Gelernter J, Zhang CK, Zhao H, Lu L, Kranzler HR, Malison RT, Li CS, Wang F, Zhang XY, Deng HW, Krystal JH, Zhang F, Luo X. Genome-Wide Association Study of Alcohol Dependence Implicates KIAA0040 on Chromosome 1q. Neuropsychopharmacology 2011, 37: 557-566. PMID: 21956439, PMCID: PMC3242317, DOI: 10.1038/npp.2011.229.Peer-Reviewed Original ResearchConceptsSignificant risk genesHapMap populationsGenome-wide association analysisExpression quantitative trait loci (eQTL) analysisGenome-wide association study data setsQuantitative trait locus (QTL) analysisAssociation analysisMetabolic pathwaysRisk genesGenome-wide association studiesSNP-expression associationsCis-acting regulatory effectsExtracellular matrix proteinsGene expression levelsNumerous genesSignificant SNPsCausal variantsKIAA0040Risk lociRisk of ADLocus analysisAssociation studiesMatrix proteinsRisk SNPsCell migration
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