0000000000862283

AUTHOR

Jeannette Lechner-scott

showing 4 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
researchProduct

IL12A, MPHOSPH9/CDK2AP1 and RGS1 are novel multiple sclerosis susceptibility loci

2010

A recent meta-analysis identified seven single-nucleotide polymorphisms (SNPs) with suggestive evidence of association with multiple sclerosis (MS). We report an analysis of these polymorphisms in a replication study that includes 8,085 cases and 7,777 controls. A meta-analysis across the replication collections and a joint analysis with the discovery data set were performed. The possible functional consequences of the validated susceptibility loci were explored using RNA expression data. For all of the tested SNPs, the effect observed in the replication phase involved the same allele and the same direction of effect observed in the discovery phase. Three loci exceeded genome-wide significa…

Multiple SclerosisImmunologyGenome-wide association studyLocus (genetics)Single-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleInterleukin-12 Subunit p35Cell Line03 medical and health sciences0302 clinical medicineIL12AGeneticsmedicineHumansGenetic Predisposition to DiseaseAlleleGenetics (clinical)Cell Proliferation030304 developmental biologyGenetics0303 health sciencesTumor Suppressor ProteinsMultiple sclerosisCell cyclemedicine.disease3. Good healthCeliac DiseaseCase-Control StudiesImmunologyExpression quantitative trait lociLeukocytes MononuclearRGS Proteins030217 neurology & neurosurgeryGenes & Immunity
researchProduct

Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

2013

International audience; Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variant…

Multiple SclerosisGenotype[SDV]Life Sciences [q-bio]European Continental Ancestry GroupGenome-wide association studyCLEC16ABiologymultiple sclerosisMajor histocompatibility complexPolymorphism Single NucleotideArticleWhite People03 medical and health sciences0302 clinical medicineResearch Support N.I.H. ExtramuralGene FrequencyPolymorphism (computer science)Journal ArticleGeneticsmedicineHumansGenetic Predisposition to DiseaseAlleleGenotypingAllele frequency030304 developmental biologyGenetics0303 health sciencesResearch Support Non-U.S. Gov'tMultiple sclerosisChromosome MappingGenetic Variationmedicine.disease3. Good healthGenetic Locibiology.protein030217 neurology & neurosurgery[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyGenome-Wide Association Study
researchProduct

Prognostic indicators in pediatric clinically isolated syndrome

2017

To assess prognostic factors for a second clinical attack and a first disability worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of Multiple Sclerosis (MS) patients. Objective: To assess prognostic factors for a second clinical attack and a first disability-worsening event in pediatric clinically isolated syndrome (pCIS) suggestive of multiple sclerosis (MS) patients. Methods: A cohort of 770 pCIS patients was followed up for at least 10 years. Cox proportional hazard models and Recursive Partitioning and Amalgamation (RECPAM) tree-regression were used to analyze data. Results: In pCIS, female sex and a multifocal onset were risk factors for a second clinical att…

RegistrieMaleMultiple SclerosisAdolescentAdolescent; Age of Onset; Child; Demyelinating Diseases; Female; Follow-Up Studies; Humans; Male; Multiple Sclerosis; Prognosis; Retrospective Studies; Risk Factors; Disease Progression; Registries; Neurology; Neurology (clinical)PrognosiONSET MULTIPLE-SCLEROSISCHILDHOODCHILDRENPARACLINICAL FEATURESDISABILITY PROGRESSIONNOFollow-Up StudieRisk FactorsRetrospective Studieprognostic indicatorsMultiple Sclerosipediatric multiple sclerosis prognosis indicatorsHumansRegistriesAge of OnsetChildOPTIC NEURITISRetrospective StudiesRisk FactorDemyelinating DiseaseNATURAL-HISTORYPrognosismultiple sclerosis clinically isolated syndrome prognostic indicatorsNeurologyTRANSVERSE MYELITISclinically isolated syndromeINTERFERON BETA-1BDisease ProgressionSettore MED/26 - NeurologiaFemaleNeurology (clinical)FOLLOW-UPDemyelinating DiseasesFollow-Up StudiesHuman
researchProduct