0000000000590163

AUTHOR

Patricia P. Ramsay

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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Heterogeneity at the HLA-DRB1 locus and risk for multiple sclerosis.

2006

Variation in major histocompatibility complex genes on chromosome 6p21.3, specifically the human leukocyte antigen HLA-DR2 or DRB1*1501-DQB1*0602 extended haplotype, confers risk for multiple sclerosis (MS). Previous studies of DRB1 variation and both MS susceptibility and phenotypic expression have lacked statistical power to detect modest genotypic influences, and have demonstrated conflicting results. Results derived from analyses of 1339 MS families indicate DRB1 variation influences MS susceptibility in a complex manner. DRB1*15 was strongly associated in families (P=7.8x10(-31)), and a dominant DRB1*15 dose effect was confirmed (OR=7.5, 95% CI=4.4-13.0, P<0.0001). A modest dose effect…

Models MolecularMaleSequence Homologyimmune system diseasesModelsRisk FactorsDatabases GeneticAdult Alleles Amino Acid Sequence Databases; Genetic Female Genetic Variation Genotype HLA-DR Antigens; chemistry/genetics HLA-DRB1 Chains Humans Male Middle Aged Models; Molecular Molecular Sequence Data Multiple Sclerosis; Chronic Progressive; genetics/immunology Multiple Sclerosis; genetics/immunology Phenotype Risk Factors Sequence Homology; Amino Acidskin and connective tissue diseasesHLA-DRB1Genetics (clinical)GeneticsGeneral MedicineMultiple Sclerosis Chronic ProgressiveMiddle AgedAmino AcidChronic ProgressivePhenotypeFemalemusculoskeletal diseasesAdultMultiple SclerosisGenotypeMolecular Sequence DataLocus (genetics)Human leukocyte antigenBiologyDatabases. Alleles phenotype heterogeneity human leukocyte antigens age of onset chromosomes genes genotype haplotypesmultiple sclerosis relapsing-remitting genetics disability primary progressive multiple sclerosis hla-drb1 gene illness length severity of illnessGeneticGenetic variationGeneticsmedicineHumansAmino Acid SequenceAlleleMolecular BiologyAllelesSequence Homology Amino AcidMultiple sclerosisHaplotypeGenetic VariationMolecularHLA-DR Antigensmedicine.diseasegenetics/immunologychemistry/geneticsImmunologyAge of onsetHLA-DRB1 Chains
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APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers

2006

Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with dis…

Apolipoprotein EOncologyRiskmedicine.medical_specialtyPathologyMultiple SclerosisGenotypeApolipoprotein E2Apolipoprotein E4Polymorphism Single NucleotideSeverity of Illness IndexLinkage DisequilibriumPrimary progressiveCentral nervous system disease03 medical and health sciences0302 clinical medicineApolipoproteins EDisease severityPolymorphism (computer science)Internal medicineGenotypemedicineHumansGenetic Predisposition to Disease10. No inequalityAlleles030304 developmental biology0303 health sciencesExpanded Disability Status ScalePolymorphism GeneticScience & Technologybusiness.industryMultiple sclerosismedicine.disease3. Good healthPedigreePhenotypeCase-Control StudiesSettore MED/26 - NeurologiaNeurology (clinical)businessMultiple Sclerosis APOE disease severity meta-analysis030217 neurology & neurosurgery
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