2020
The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders
Nuñez-Rios D, Chaskel R, Lopez A, Galeano L, Lattig M. The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders. PLOS ONE 2020, 15: e0235512. PMID: 32614901, PMCID: PMC7332001, DOI: 10.1371/journal.pone.0235512.Peer-Reviewed Original ResearchConceptsAutism spectrum disorderSpectrum disorderExtracellular serotonin levelsIdiopathic autism spectrum disorderPsychiatric disordersSerotonin levelsSymptom severityLatin American populationsGenetic studiesAllele frequenciesAmerican populationMeta-analysisFunctional roleGenotypic variabilityDisordersPolymorphismColombian individualsAutismComplex disorderLatin American individualsASD riskCaucasian populationAmerican individualsNon-associativeShort/long
2019
Lack of an Association between a Polymorphism in the KRAS 3′ Untranslated Region (rs61764370) and Endometriosis in a Large European Case-Control Study
D'Hooghe TM, Grechukhina O, Cho S, Fassbender A, O D, Peterse D, Weidhaas J, Taylor HS. Lack of an Association between a Polymorphism in the KRAS 3′ Untranslated Region (rs61764370) and Endometriosis in a Large European Case-Control Study. Gynecologic And Obstetric Investigation 2019, 84: 575-582. PMID: 31185482, DOI: 10.1159/000500626.Peer-Reviewed Original ResearchConceptsCase-control studyGerm-line single nucleotide polymorphismsKRAS geneLarge case-control studyReproductive-age womenType of infertilityBody mass indexEuropean case-control studyKRAS 3' untranslated regionLarge European case-control studyMicroRNA-binding sitesMedical therapyPeritoneal biopsiesMass indexPeripheral bloodAge womenPolymerase chain reactionCommon disorderTreatment resistanceEndometriosisCarrier rateVariant allelesCaucasian populationGene variantsKRAS allelePTPN22 +788 G>A (R263Q) Polymorphism is Associated with mRNA Expression but it is not a Susceptibility Marker for Rheumatoid Arthritis Patients from Western Mexico
Ramírez-Pérez S, Sánchez-Zuno G, Chavarría-Buenrostro L, Montoya-Buelna M, Reyes-Pérez I, Ramírez-Dueñas M, Palafox-Sánchez C, Martínez-Bonilla G, Muñoz-Valle J. PTPN22 +788 G>A (R263Q) Polymorphism is Associated with mRNA Expression but it is not a Susceptibility Marker for Rheumatoid Arthritis Patients from Western Mexico. Biochemical Genetics 2019, 57: 455-465. PMID: 30637604, DOI: 10.1007/s10528-019-09902-8.Peer-Reviewed Original ResearchConceptsWestern Mexican populationPolymerase chain reaction-restriction fragment length polymorphismRA patientsControl subjectsMRNA expressionG/A genotypeRA susceptibilityReal-time quantitative-PCR assayAssociated with RA susceptibilityRheumatoid arthritisMexican populationReaction-restriction fragment length polymorphismHomozygous G/G genotypeAssociated with mRNA expressionCase-control studyNon-HLA genesAssociated with rheumatoid arthritisRheumatoid arthritis patientsG/G genotypeSusceptibility markersCaucasian populationPatientsPTPN22Quantitative-PCR assayRA risk
2015
Genetic variants in the CPNE5 gene are associated with alcohol dependence and obesity in Caucasian populations
Wang KS, Zuo L, Pan Y, Xie C, Luo X. Genetic variants in the CPNE5 gene are associated with alcohol dependence and obesity in Caucasian populations. Journal Of Psychiatric Research 2015, 71: 1-7. PMID: 26522866, DOI: 10.1016/j.jpsychires.2015.09.008.Peer-Reviewed Original ResearchConceptsAlcohol dependenceSingle nucleotide polymorphismsMultiple logistic regression analysisMarshfield sampleRisk of obesityLogistic regression analysisCentral nervous systemGenetic variantsObesityNervous systemCommon genetic variantsAlcohol addictionCaucasian populationRegression analysisPLINK softwareGenetic associationV geneFirst evidenceAssociationCaucasian samplesGenetic componentPopulationGenetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian Population
White MJ, Kodaman NM, Harder RH, Asselbergs FW, Vaughan DE, Brown NJ, Moore JH, Williams SM. Genetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian Population. PLOS ONE 2015, 10: e0136379. PMID: 26322636, PMCID: PMC4556460, DOI: 10.1371/journal.pone.0136379.Peer-Reviewed Original ResearchConceptsPlasminogen activator inhibitor-1Genetic variantsCircadian clock genesMost genetic studiesCardiovascular disease susceptibilityImportant genetic variantsActivator inhibitor-1Inhibitor-1Clock genesGenetic studiesGenetic effectsDisease susceptibilityArylsulfatase BMajor modulatorNovel associationsLack of overlapGenesPathway effectsMedian PAI-1European descentVariantsGeneticsPopulationSNPsCaucasian population
2013
Influence of Racial Differences on Outcomes after Thrombolytic Therapy in Acute Ischemic Stroke
Mishra NK, Mandava P, Chen C, Grotta J, Lees KR, Kent TA. Influence of Racial Differences on Outcomes after Thrombolytic Therapy in Acute Ischemic Stroke. International Journal Of Stroke 2013, 9: 613-617. PMID: 24148895, DOI: 10.1111/ijs.12162.Peer-Reviewed Original ResearchConceptsTissue plasminogen activatorBaseline National InstitutesHealth Stroke ScaleNon-Caucasian patientsPlasminogen activatorStroke ScaleNational InstituteRace-EthnicityNon-thrombolysed patientsStroke III TrialRace-ethnicity groupsNeuroprotection trialsIII trialsDiabetes statusFunctional outcomeImproved outcomesPatientsNeurological disordersCaucasian populationDifferential responseEthnicity groupsOutcomesCaucasiansOddsTrials
2012
Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations
Palmer AJ, Lochhead P, Hold GL, Rabkin CS, Chow WH, Lissowska J, Vaughan TL, Berry S, Gammon M, Risch H, El-Omar EM. Genetic variation in C20orf54, PLCE1 and MUC1 and the risk of upper gastrointestinal cancers in Caucasian populations. European Journal Of Cancer Prevention 2012, 21: 541-544. PMID: 22805490, PMCID: PMC3460062, DOI: 10.1097/cej.0b013e3283529b79.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaAdultBiomarkers, TumorCarcinoma, Squamous CellCase-Control StudiesEsophageal NeoplasmsFemaleGastrointestinal NeoplasmsGenetic Predisposition to DiseaseHumansMaleMembrane Transport ProteinsMucin-1Phosphoinositide Phospholipase CPolandPolymorphism, Single NucleotidePrognosisRisk FactorsUnited StatesWhite PeopleConceptsUpper gastrointestinal cancerOesophageal squamous cell cancerSquamous cell cancerGastrointestinal cancerCancer casesRisk of GCCaucasian populationCell cancerOdds ratioOesophageal squamous cell carcinomaSquamous cell carcinomaConfidence intervalsCase-control studyIntestinal histological typeGastric cancer casesHistological typeCell carcinomaSimilar associationGC casesChinese populationFirst studyCancerLarge genome-wide association studiesMUC1Adenocarcinoma
2009
Selected hematologic and biochemical measurements in African HIV-infected and uninfected pregnant women and their infants: the HIV Prevention Trials Network 024 protocol
Mwinga K, Vermund SH, Chen YQ, Mwatha A, Read JS, Urassa W, Carpenetti N, Valentine M, Goldenberg RL. Selected hematologic and biochemical measurements in African HIV-infected and uninfected pregnant women and their infants: the HIV Prevention Trials Network 024 protocol. BMC Pediatrics 2009, 9: 49. PMID: 19664210, PMCID: PMC2746190, DOI: 10.1186/1471-2431-9-49.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnti-HIV AgentsBlood Cell CountDouble-Blind MethodFemaleFollow-Up StudiesGestational AgeHematocritHemoglobinsHIVHIV InfectionsHumansIncidenceInfantInfant, NewbornMalawiNevirapinePregnancyPregnancy Complications, InfectiousRetrospective StudiesRNA, ViralTanzaniaTreatment OutcomeYoung AdultZambiaConceptsHIV infectionPregnant African womenRandomized clinical trialsTime of laborComplete laboratory dataWeeks of ageNevirapine prophylaxisChild transmissionHIV exposureWeeks' gestationHIV statusPregnant womenNewborn infantsClinical trialsPublic clinicsHIVInfantsBiochemical measurementsCaucasian populationWomenLaboratory dataNormative dataAfrican womenInfectionWeeksCD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations
Hold GL, Rabkin CS, Gammon MD, Berry SH, Smith MG, Lissowska J, Risch HA, Chow WH, Mowat NA, Vaughan TL, El-Omar EM. CD14-159C/T and TLR9-1237T/C polymorphisms are not associated with gastric cancer risk in Caucasian populations. European Journal Of Cancer Prevention 2009, 18: 117-119. PMID: 19337058, PMCID: PMC2679029, DOI: 10.1097/cej.0b013e3283101292.Peer-Reviewed Original ResearchMeSH KeywordsAdenocarcinomaCase-Control StudiesEsophageal NeoplasmsFemaleGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationHumansLinkage DisequilibriumLipopolysaccharide ReceptorsMalePolandPolymorphism, Single NucleotidePromoter Regions, GeneticRisk FactorsStomach NeoplasmsToll-Like Receptor 9United StatesWhite PeopleConceptsCD14-159C/TC promoter polymorphismCase-control studyGastric cancerPromoter polymorphismGastric cancer case-control studyTLR9 -1237T/C polymorphismPopulation-based case-control studyUpper gastrointestinal tract cancerHelicobacter pylori-induced gastritisCD14-159C/T polymorphismToll-like receptor signalingCaucasian populationFrequency-matched controlsGastrointestinal tract cancerPylori-induced gastritisUpper gastrointestinal tractCancer case-control studySingle nucleotide polymorphismsHost genetic factorsPotential confounding factorsGastric cancer riskTaiwanese Chinese populationGastric carcinoma casesNoncardia gastric carcinoma
2008
Degenerate TCR recognition and dual DR2 restriction of autoreactive T cells: Implications for the initiation of the autoimmune response in multiple sclerosis
Zhang X, Tang Y, Sujkowska D, Wang J, Ramgolam V, Sospedra M, Adams J, Martin R, Pinilla C, Markovic‐Plese S. Degenerate TCR recognition and dual DR2 restriction of autoreactive T cells: Implications for the initiation of the autoimmune response in multiple sclerosis. European Journal Of Immunology 2008, 38: 1297-1309. PMID: 18412170, DOI: 10.1002/eji.200737519.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAmino Acid SequenceAutoimmunityClone CellsEpitopes, T-LymphocyteHLA-DR2 AntigenHumansInterferon-gammaInterleukin-17Interleukin-4Leukocytes, MononuclearLymphocyte ActivationMiddle AgedMultiple Sclerosis, Relapsing-RemittingMyelin Basic ProteinMyelin ProteinsMyelin Proteolipid ProteinMyelin-Associated GlycoproteinMyelin-Oligodendrocyte GlycoproteinPeptide FragmentsPeptidesReceptors, Antigen, T-CellT-Lymphocyte SubsetsT-LymphocytesConceptsMultiple sclerosisAutoimmune responseT cellsProliferative responseTCR degeneracyMHC class II allelesAutoreactive T cellsClass II allelesT cell activationMyelin peptidesMS patientsDR2 allelesHealthy controlsReactive cellsStimulatory potencyCell activationTCR recognitionCaucasian populationContext of diseaseSclerosisDR2aCellsILTCRPeptides
2007
Functional BSND Variants in Essential Hypertension*
Sile S, Gillani NB, Velez DR, Vanoye CG, Yu C, Byrne LM, Gainer JV, Brown NJ, Williams SM, George AL. Functional BSND Variants in Essential Hypertension*. American Journal Of Hypertension 2007, 20: 1176-1182. PMID: 17954364, DOI: 10.1016/j.amjhyper.2007.07.003.Peer-Reviewed Original ResearchConceptsThick ascending limbControl populationNormotensive control populationSodium chloride reabsorptionClC-Kb chloride channelsBlood pressure regulationLogistic regression analysisRenal salt reabsorptionChloride channelsNormotensive populationEssential hypertensionChloride reabsorptionHomogenous cohortStudy populationHypertensionAscending limbGhanaian subjectsSalt reabsorptionHispanic subjectsClC-KbCaucasian populationPartial lossSingle nucleotide polymorphismsRegression analysisRare variantsEpidemiology of giant-cell arteritis in an Arab population: a 22-year study
Chaudhry I, Shamsi F, Elzaridi E, Arat Y, Bosley T, Riley F. Epidemiology of giant-cell arteritis in an Arab population: a 22-year study. British Journal Of Ophthalmology 2007, 91: 715. PMID: 17229803, PMCID: PMC1955573, DOI: 10.1136/bjo.2006.108845.Peer-Reviewed Original ResearchConceptsTemporal artery biopsyGiant-cell arteritisBiopsy-proven giant-cell arteritisKing Khaled Eye Specialist HospitalNegative temporal artery biopsyCases of giant-cell arteritisBiopsy-negative groupBiopsy-positive groupBiopsy-proven casesArab populationSmall absolute numberArtery biopsyUntreated patientsClinical featuresClinical recordsLow incidenceCaucasian populationSpecialist HospitalAbsolute numberArteritisPatientsEpidemiologyStudy objectiveBiopsyPopulation
1998
Sunlamp use and the risk of cutaneous malignant melanoma: a population-based case-control study in Connecticut, USA
Chen Y, Dubrow R, Zheng T, Barnhill R, Fine J, Berwick M. Sunlamp use and the risk of cutaneous malignant melanoma: a population-based case-control study in Connecticut, USA. International Journal Of Epidemiology 1998, 27: 758-765. PMID: 9839730, DOI: 10.1093/ije/27.5.758.Peer-Reviewed Original ResearchConceptsCutaneous malignant melanomaSunlamp useMalignant melanomaHigh riskPopulation-based case-control studyFirst primary cutaneous melanomaRecreational sun exposurePrimary cutaneous melanomaCase-control studyRisk of melanomaUse of sunlampsRandom digit dialingCutaneous melanomaSubgroup analysisSun exposureCutaneous phenotypeGeneral populationStudy subjectsMelanomaLimited evidenceCaucasian populationFirst useRiskSunlampsAmount of exposureGenetic Hemochromatosis
Schilsky M, Sternlieb I. Genetic Hemochromatosis. Current Clinical Practice 1998, 241-247. DOI: 10.1007/978-1-4612-1808-1_18.Peer-Reviewed Original Research
1996
Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene
Dean M, Carrington M, Winkler C, Huttley G, Smith M, Allikmets R, Goedert J, Buchbinder S, Vittinghoff E, Gomperts E, Donfield S, Vlahov D, Kaslow R, Saah A, Rinaldo C, Detels R, O'Brien S. Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene. Science 1996, 273: 1856-1862. PMID: 8791590, DOI: 10.1126/science.273.5283.1856.Peer-Reviewed Original ResearchMeSH KeywordsAcquired Immunodeficiency SyndromeBase SequenceChromosome MappingChromosomes, Human, Pair 3Cohort StudiesDisease ProgressionGenesHemophilia AHeterozygoteHIV InfectionsHIV-1Homosexuality, MaleHomozygoteHumansImmunity, InnateMaleMolecular Sequence DataReceptors, CCR5Receptors, CytokineReceptors, HIVRisk FactorsSequence DeletionSurvival AnalysisConceptsHIV-1 infectionHIV-1-infected individualsAntibody-negative individualsCohort studyRapid progressorsHuman immunodeficiencyDisease progressionRisk groupsT lymphocytesGenetic restrictionSurvival analysisInfected individualsDeletion alleleCaucasian populationInfectionAIDSProgressionHuman chromosome 3p21Secondary receptorGroup of individualsChromosome 3p21Certain strainsDeletion homozygotesIndividualsProgressors
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