2021
Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation
Khetan S, Kales S, Kursawe R, Jillette A, Ulirsch JC, Reilly SK, Ucar D, Tewhey R, Stitzel ML. Functional characterization of T2D-associated SNP effects on baseline and ER stress-responsive β cell transcriptional activation. Nature Communications 2021, 12: 5242. PMID: 34475398, PMCID: PMC8413311, DOI: 10.1038/s41467-021-25514-6.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesSingle nucleotide polymorphismsTranscriptional activationEndoplasmic reticulum (ER) stress conditionsTranscriptional stress responseCis-regulatory effectsParallel reporter assaysT2D single nucleotide polymorphismsHigh linkage disequilibriumMultiple single nucleotide polymorphismsT2D genetic riskT2D-associated single nucleotide polymorphismsMIN6 β-cellsChromatin accessibilityCandidate single nucleotide polymorphismsT2D geneticsHuman genomeAssociation signalsRepetitive elementsFunctional characterizationNuclear elementsMolecular mechanismsReporter assaysStress responseAssociation studies
2020
Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways
Li X, Christenson SA, Modena B, Li H, Busse WW, Castro M, Denlinger LC, Erzurum SC, Fahy JV, Gaston B, Hastie AT, Israel E, Jarjour NN, Levy BD, Moore WC, Woodruff PG, Kaminski N, Wenzel SE, Bleecker ER, Meyers DA, Program N. Genetic analyses identify GSDMB associated with asthma severity, exacerbations, and antiviral pathways. Journal Of Allergy And Clinical Immunology 2020, 147: 894-909. PMID: 32795586, PMCID: PMC7876167, DOI: 10.1016/j.jaci.2020.07.030.Peer-Reviewed Original ResearchConceptsExpression quantitative trait loci (eQTL) analysisQuantitative trait locus (QTL) analysisSingle nucleotide polymorphismsGasdermin BMultiple single nucleotide polymorphismsFunctional genesExpression levelsLocus analysisAntiviral pathwaysGenes/single-nucleotide polymorphismsWhole genome sequencesGene expression dataEpithelial cellsImmune system pathwaysHigh expression levelsHuman bronchial epithelial cellsIFN regulatory factorGPI attachmentGSDMB expressionAsthma susceptibilityGenetic analysisGene expressionPathway analysisBronchial epithelial cellsRegulatory factorsValidation of novel forensic DNA markers using multiplex microhaplotype sequencing
Gandotra N, Speed WC, Qin W, Tang Y, Pakstis AJ, Kidd KK, Scharfe C. Validation of novel forensic DNA markers using multiplex microhaplotype sequencing. Forensic Science International Genetics 2020, 47: 102275. PMID: 32305739, PMCID: PMC10131188, DOI: 10.1016/j.fsigen.2020.102275.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsMH lociMultiplex sequencingNovel single nucleotide polymorphismsSmall DNA amountsSingle MiSeq runMultiple single nucleotide polymorphismsHigher effective numberBiogeographic variationDNA markersGenomic sequencesNovel lociGenome ProjectDNA amountMiSeq runDifferent world populationsNucleotide polymorphismsLociSequencingMicrohaplotypesEffective numberDiverse range
2015
Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression
Guo X, Li Z, Zhang C, Yi Z, Li H, Cao L, Yuan C, Hong W, Wu Z, Peng D, Chen J, Xia W, Zhao G, Wang F, Yu S, Cui D, Xu Y, Golam CM, Smith AK, Wang T, Fang Y. Down-regulation of PRKCB1 expression in Han Chinese patients with subsyndromal symptomatic depression. Journal Of Psychiatric Research 2015, 69: 1-6. PMID: 26343587, DOI: 10.1016/j.jpsychires.2015.07.011.Peer-Reviewed Original ResearchConceptsSubsyndromal symptomatic depressionPeripheral blood mononuclear cellsHan Chinese patientsSSD patientsMRNA expression levelsMDD patientsSymptomatic depressionChinese patientsBlood mononuclear cellsSingle nucleotide polymorphismsExpression levelsMononuclear cellsPatientsMRNA expressionCommon diseaseReal-time quantitative PCR studiesSignificant decreaseSignificant social dysfunctionSocial dysfunctionPCR studiesCandidate genesTranscript networksFunctional annotation toolMultiple single nucleotide polymorphismsQuantitative PCR studies
2009
A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia
Meda SA, Jagannathan K, Gelernter J, Calhoun VD, Liu J, Stevens MC, Pearlson GD. A pilot multivariate parallel ICA study to investigate differential linkage between neural networks and genetic profiles in schizophrenia. NeuroImage 2009, 53: 1007-1015. PMID: 19944766, PMCID: PMC3968678, DOI: 10.1016/j.neuroimage.2009.11.052.Peer-Reviewed Original ResearchMeSH KeywordsAcoustic StimulationBrain MappingBrain-Derived Neurotrophic FactorDopamine Plasma Membrane Transport ProteinsEndophenotypesFemaleGenetic Predisposition to DiseaseGenotypeHumansImage Interpretation, Computer-AssistedMagnetic Resonance ImagingMaleNeural PathwaysPilot ProjectsPolymorphism, Single NucleotideSchizophreniaSerotonin Plasma Membrane Transport ProteinsConceptsDopamine transporterBrain functionNeurotropic factorAuditory oddball taskSchizophrenia patientsSingle nucleotide polymorphismsMultiple risk genesRisk genesOddball taskRelated brain functionsHealthy controlsSchizophrenia risk genesAbnormal activationGenomic factorsTemporal gyrusPatientsTask-relevant regionsSchizophreniaSignificant differencesAttention/Multiple single nucleotide polymorphismsGenetic profilePsychiatric neuroimagingBrainGenotype-phenotype relationships
2007
Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study
Hafler D, Compston A, Sawcer S, Lander E, Daly M, De Jager P, de Bakker P, Gabriel S, Mirel D, Ivinson A, Pericak-Vance M, Gregory S, Rioux J, McCauley J, Haines J, Barcellos L, Cree B, Oksenberg J, Hauser S. Risk Alleles for Multiple Sclerosis Identified by a Genomewide Study. New England Journal Of Medicine 2007, 357: 851-862. PMID: 17660530, DOI: 10.1056/nejmoa073493.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAgedAllelesFemaleGenetic Predisposition to DiseaseGenome, HumanHLA-DR alpha-ChainsHLA-DR AntigensHumansInterleukin-2 Receptor alpha SubunitInterleukin-7 Receptor alpha SubunitLinkage DisequilibriumMaleMiddle AgedMultiple SclerosisMutationOligonucleotide Array Sequence AnalysisPolymorphism, Single NucleotideRisk FactorsConceptsMultiple sclerosisReceptor alpha geneSingle nucleotide polymorphismsControl subjectsCase subjectsInterleukin-7 receptor alpha geneHeritable risk factorsAlpha geneRisk factorsFamily triosSclerosisRisk allelesHLA lociHLA-DRA locusTransmission disequilibrium testStringent P valueP-valueEffect sizeSignificant heritable componentInterleukin-2 receptor alpha geneNonsynonymous single nucleotide polymorphismsGenomewide association studiesMultiple single nucleotide polymorphismsSubjectsAssociation
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