0000000000590280

AUTHOR

Thomas M. Mack

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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Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

2019

International audience; Epidemiologic studies show an increased risk of non-Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination of shared environmental factors and/or genetic factors, or a causative cascade: chronic inflammation/antigen-stimulation in one disease leads to another. Here we assess shared genetic risk in genome-wide-association-studies (GWAS). Secondary analysis of GWAS of NHL subtypes (chronic lymphocytic leukemia, diffuse large B-cell lymphoma, follicular lymphoma, and marginal zone lymphoma) and ADs (rheumatoid arthritis, systemic lupus erythematosus, and multiple sclerosis). Shared genetic risk was assessed by (a) description of regional g…

OncologyMaleMultifactorial InheritanceLymphomaEpidemiologyChronic lymphocytic leukemiaFollicular lymphomaGenome-wide association studyDiseaseNeurodegenerativemeta-analysiimmune system diseasesHLA AntigensRisk Factorshemic and lymphatic diseases2.1 Biological and endogenous factorsHLA AntigenAetiologyGenetics (clinical)CancerAllele0303 health sciences[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyLymphoma Non-Hodgkinnon-Hodgkin lymphoma030305 genetics & hereditySingle NucleotideHematologyMiddle Aged3. Good healthnon-Hodgkin lymphoma.Public Health and Health ServicesFemaleHumanmedicine.medical_specialtyautoimmune disease; genome-wide association study; meta-analysis; non-Hodgkin lymphoma; Alleles; Autoimmune Diseases; Female; HLA Antigens; Humans; Lymphoma Non-Hodgkin; Male; Middle Aged; Multifactorial Inheritance; Polymorphism Single Nucleotide; Risk Factors; Genetic Predisposition to DiseaseNon-Hodgkinautoimmune diseasePolymorphism Single NucleotideArticleAutoimmune Diseases03 medical and health sciencesRare DiseasesInternal medicineGenetic variationmedicineGeneticsHumansGenetic Predisposition to DiseasePolymorphismAlleles030304 developmental biologyAutoimmune diseasegenome-wide association studybusiness.industryMultiple sclerosisRisk FactorArthritisInflammatory and immune systemHuman Genomemedicine.diseaseLymphomaBrain Disordersmeta-analysisbusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus

2014

Contains fulltext : 137763.pdf (Publisher’s version ) (Open Access) Recent genome-wide association studies (GWAS) of Hodgkin lymphoma (HL) have identified associations with genetic variation at both HLA and non-HLA loci; however, much of heritable HL susceptibility remains unexplained. Here we perform a meta-analysis of three HL GWAS totaling 1,816 cases and 7,877 controls followed by replication in an independent set of 1,281 cases and 3,218 controls to find novel risk loci. We identify a novel variant at 19p13.3 associated with HL (rs1860661; odds ratio (OR)=0.81, 95% confidence interval (95% CI)=0.76-0.86, Pcombined=3.5 x 10(-10)), located in intron 2 of TCF3 (also known as E2A), a regul…

AdultMaleAdolescent[SDV]Life Sciences [q-bio]TRANSCRIPTION FACTOR E2AGENETIC-ASSOCIATIONGeneral Physics and AstronomyLocus (genetics)Genome-wide association studyHuman leukocyte antigenBiologyGeneral Biochemistry Genetics and Molecular BiologyArticleDISEASEYoung AdultBasic Helix-Loop-Helix Transcription FactorsHumansTOOLGenetic Predisposition to DiseaseAlleleGENOME-WIDE ASSOCIATIONEPSTEIN-BARR-VIRUSGenetic associationAgedGeneticsAged 80 and overRISKMultidisciplinaryCELL-TYPECase-control studyGenetic VariationGeneral ChemistryOdds ratioGenomicsMiddle AgedALLELESHodgkin DiseaseCANCERMalaltia de HodgkinHodgkin lymphoma (HL)GenòmicaGenetic epidemiologyCase-Control StudiesUrological cancers Radboud Institute for Health Sciences [Radboudumc 15]Hodgkin's diseaseChromosomes Human Pair 19Genome-Wide Association Study
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