0000000000222685

AUTHOR

Theresa Dankowski

showing 4 related works from this author

Novel multiple sclerosis susceptibility loci implicated in epigenetic regulation

2016

Genome-wide study in Germans identifies four novel multiple sclerosis risk genes and confirms already known gene loci.

0301 basic medicineMaleDLEU1MedizinGenome-wide association studyEpigenesis GeneticCohort StudiesResearch ArticlesTranscriptional Regulator ERGGeneticsAged 80 and overGlycine Hydroxymethyltransferaseeducation.field_of_studyMultidisciplinaryDNA methylationSciAdv r-articlesMiddle AgedSHMT13. Good healthddc:DNA-Binding ProteinsERGDNA methylationFemaleMAZFunction and Dysfunction of the Nervous SystemResearch ArticleAdultAdolescentPopulationQuantitative Trait Loci610 Medicine & healthDleu1 ; Dna Methylation ; Erg ; L3mbtl3 ; Maz ; Multiple Sclerosis ; Shmt1 ; Genome-wide Association StudyQuantitative trait locusBiologyMajor histocompatibility complexNeurological DisordersMultiple sclerosis03 medical and health sciencesYoung AdultTranscriptional Regulator ERGHumansGenetic Predisposition to DiseaseL3MBTL3EpigeneticsAlleleeducationAllelesAgedgenome-wide association study030104 developmental biologyGenetic LociCase-Control Studiesbiology.proteinTranscription Factors
researchProduct

Successful Replication of GWAS Hits for Multiple Sclerosis in 10,000 Germans Using the Exome Array

2015

Genome-wide association studies (GWAS) successfully identified various chromosomal regions to be associated with multiple sclerosis (MS). The primary aim of this study was to replicate reported associations from GWAS using an exome array in a large German study. German MS cases (n = 4,476) and German controls (n = 5,714) were genotyped using the Illumina HumanExome v1-Chip. Genotype calling was performed with the Illumina Genome Studio(TM) Genotyping Module, followed by zCall. Single-nucleotide polymorphisms (SNPs) in seven regions outside the human leukocyte antigen (HLA) region showed genome-wide significant associations with MS (P values < 5 × 10(-8) ). These associations have been repor…

Geneticseducation.field_of_studyEpidemiologyPopulationGenome-wide association studySingle-nucleotide polymorphismHuman leukocyte antigenBiologySNPeducationExomeGenotypingGenetics (clinical)Genetic associationGenetic Epidemiology
researchProduct

Treatment choices and neuropsychological symptoms of a large cohort of early MS

2018

ObjectiveTo assess clinical characteristics, distribution of disease-modifying treatments (DMTs), and neuropsychological symptoms in a large cohort of patients with early-stage MS.MethodsThe German National MS Cohort is a multicenter prospective longitudinal cohort study that has recruited DMT-naive patients with clinically isolated syndrome (CIS) and relapsing-remitting MS (RRMS) since 2010. We evaluated their baseline characteristics and the prevalence of neuropsychological symptoms.ResultsOf 1,124 patients, with a 2.2:1 female-to-male ratio and median age at onset of 31.71 years (interquartile range [IQR]: 26.06–40.33), 44.6% and 55.3% had CIS and RRMS, respectively. The median Expanded …

medicine.medical_specialty41610 Medicine & healthArticle03 medical and health sciences0302 clinical medicineQuality of lifeInterquartile rangeInternal medicinemedicineddc:610030212 general & internal medicine10. No inequalityDepression (differential diagnoses)Expanded Disability Status ScaleClinically isolated syndromebusiness.industryMultiple sclerosisNeuropsychologymedicine.disease3. Good healthNeurologyCohortNeurology (clinical)businessFunction and Dysfunction of the Nervous System030217 neurology & neurosurgery
researchProduct

Low frequency and rare coding variation contributes to multiple sclerosis risk

2018

AbstractMultiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including &gt;230 identified by genome-wide association studies (Patsopoulos et al., 2017). Multiple strands of evidence suggest that the majority of the remaining heritability is also due to the additive effects of individual variants, rather than epistatic interactions between these variants, or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that as much as 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independe…

Genetics0303 health sciencesLinkage disequilibriumMultiple sclerosisDiseaseBiologyHeritabilitymedicine.disease3. Good health03 medical and health sciences0302 clinical medicinemedicineEpistasisCoding regionGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
researchProduct