0000000000877109

AUTHOR

B. Hemmer

showing 4 related works from this author

The Multiple Sclerosis Genomic Map: Role of peripheral immune cells and resident microglia in susceptibility

2017

Abstract:We assembled and analyzed genetic data of 47,351 multiple sclerosis (MS) subjects and 68,284 control subjects and establish a reference map of the genetic architecture of MS that includes 200 autosomal susceptibility variants outside the major histocompatibility complex (MHC), one chromosome X variant, and 32 independent associations within the extended MHC. We used an ensemble of methods to prioritize up to 551 potentially associated MS susceptibility genes, that implicate multiple innate and adaptive pathways distributed across the cellular components of the immune system. Using expression profiles from purified human microglia, we do find enrichment for MS genes in these brain -…

0303 health sciencesMicrogliaMultiple sclerosisCentral nervous systemBiologymedicine.diseaseMajor histocompatibility complex03 medical and health sciences0302 clinical medicineImmune systemmedicine.anatomical_structureAutoimmune ProcessImmunologymedicinebiology.proteinGene030217 neurology & neurosurgeryX chromosome030304 developmental biology
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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
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Class II HLA interactions modulate genetic risk for multiple sclerosis

2015

Association studies have greatly refined the understanding of how variation within the human leukocyte antigen (HLA) genes influences risk of multiple sclerosis. However, the extent to which major effects are modulated by interactions is poorly characterized. We analyzed high-density SNP data on 17,465 cases and 30,385 controls from 11 cohorts of European ancestry, in combination with imputation of classical HLA alleles, to build a high-resolution map of HLA genetic risk and assess the evidence for interactions involving classical HLA alleles. Among new and previously identified class II risk alleles (HLA-DRB1*15:01, HLA-DRB1*13:03, HLA-DRB1*03:01, HLA-DRB1*08:01 and HLA-DQB1*03:02) and cla…

Geneticsmusculoskeletal diseasesMultiple SclerosisHistocompatibility Antigens Class IISingle-nucleotide polymorphismGenome-wide association studyEpistasis GeneticHuman leukocyte antigenBiologyPolymorphism Single NucleotideArticleHistocompatibilityGenetic variationGeneticsHumansGenetic Predisposition to DiseaseAllele10. No inequalityHLA-DRB1AllelesGenetic association
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Ablagerung von gadoliniumhaltigen Kontrastmitteln im Gehirn nach mehrfacher Anwendung: Konsequenzen für den Einsatz der MRT bei Diagnosestellung und …

2016

Neue Studienergebnisse weisen auf einen Zusammenhang zwischen wiederholten kontrastmittel-unterstutzen MRT-Untersuchungen und Ablagerung gadoliniumhaltiger Kontrastmittel im zentralen Nervensystem hin. Ein wesentlicher Faktor hierbei stellt moglicherweise die zum Einsatz kommende Kontrastmittelsubstanzklasse (linear bzw. makrozyklisch) dar. Uber die letzten Jahrzehnte hat sich die MRT als ein unverzichtbarer Bestandteil in der Diagnostik, aber auch in der Verlaufsbeurteilung unterschiedlicher Erkrankungen etabliert. Dies gilt im besonderen Mase fur chronische Erkrankungen, wie die Multiple Sklerose. Wiederholte MRT-Untersuchungen spielen hier insbesondere durch die zunehmenden Therapieoptio…

Gynecology03 medical and health sciencesmedicine.medical_specialty0302 clinical medicinebusiness.industrymedicineNeurology (clinical)business030217 neurology & neurosurgeryMultiple skleroseAktuelle Neurologie
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