0000000000590237

AUTHOR

Justin P. Rubio

0000-0003-3750-917x

showing 3 related works from this author

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

2011

Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially increased frequency of the disease seen in the relatives of affected individuals, and systematic attempts to identify linkage in multiplex families have confirmed that variation within the major histocompatibility complex (MHC) exerts the greatest individual effect on risk. Modestly powered genome-wide association studies (GWAS) have ena…

Immunity Cellular/geneticsCellular immunityMultiple SclerosisGenome-wide association studyCLEC16ABiologyPolymorphism Single NucleotideCell Differentiation/immunologyEurope/ethnologyMajor Histocompatibility Complex/geneticsMajor Histocompatibility Complex03 medical and health sciences0302 clinical medicinemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHLA-A Antigens/geneticsAlleles030304 developmental biologyGenetic associationGenetics0303 health sciencesImmunity CellularMultidisciplinaryHLA-A AntigensGenome HumanMultiple sclerosisGenetic Predisposition to Disease/geneticsHLA-DR Antigens/geneticsLymphocyte differentiationCell DifferentiationHLA-DR AntigensT-Lymphocytes Helper-InducerRC346medicine.diseasePolymorphism Single Nucleotide/geneticsGenetic architecture3. Good healthEuropeSample SizeImmunologyGenome Human/geneticsMultiple Sclerosis/genetics030217 neurology & neurosurgeryT-Lymphocytes Helper-Inducer/cytologyGenome-Wide Association StudyHLA-DRB1 Chains
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A genomewide association study of smoking relapse in four European population-based samples.

2013

OBJECTIVES: Genomewide association studies (GWAS) have identified clear evidence of genetic markers for nicotine dependence. Other smoking phenotypes have been tested, but the results are less consistent. The tendency to relapse versus the ability to maintain long-term abstinence has received little attention in genetic studies; thus, our aim was to provide a better biological understanding of this phenotype through the identification of genetic loci associated with smoking relapse. METHODS: We carried out a GWAS on data from two European population-based collections, including a total of 835 cases (relapsers) and 990 controls (abstainers). Top-ranked findings from the discovery phase were …

OncologyMalemedicine.medical_specialtymedia_common.quotation_subjectGenome-wide association studyDiseasePolymorphism Single NucleotideWhite PeopleMeta-Analysis as TopicPolymorphism (computer science)RecurrenceInternal medicineGeneticsmedicineHumansALSPAC; genetics; KORA; PsyCoLaus; SHIP; smokingGeneBiological PsychiatryGenetics (clinical)media_commonDemographyGeneticsbusiness.industrySmokingAbstinenceMiddle AgedPhenotypePsychiatry and Mental healthGenetic markerCase-Control StudiesGenomewide associationFemalebusinessGenome-Wide Association StudyPsychiatric genetics
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Multiple sclerosis severity score: Using disability and disease duration to rate disease severity

2005

Background: There is no consensus method for determining progression of disability in patients with multiple sclerosis (MS) when each patient has had only a single assessment in the course of the disease. Methods: Using data from two large longitudinal databases, the authors tested whether cross-sectional disability assessments are representative of disease severity as a whole. An algorithm, the Multiple Sclerosis Severity Score (MSSS), which relates scores on the Expanded Disability Status Scale (EDSS) to the distribution of disability in patients with comparable disease durations, was devised and then applied to a collection of 9,892 patients from 11 countries to create the Global MSSS. I…

AdultMalemedicine.medical_specialtyMultiple SclerosisDatabases FactualCross-sectional studyModels NeurologicalDiseaseSUSCEPTIBILITYSeverity of Illness IndexCohort StudiesDisability EvaluationPredictive Value of TestsRecurrenceSeverity of illnessmedicineHumansLongitudinal StudiesAge of OnsetModels StatisticalExpanded Disability Status Scalebusiness.industryMultiple sclerosisOUTCOME MEASUREReproducibility of ResultsNATURAL-HISTORYMiddle AgedPrognosismedicine.diseaseCross-Sectional StudiesPredictive value of testsDisease ProgressionPhysical therapyFemaleFranceNeurology (clinical)Age of onsetbusinessCohort study
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