0000000000086088

AUTHOR

Peter Lichtner

showing 9 related works from this author

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants

2012

Abstract: Background Two recent studies identified a mutation (p.Asp620Asn) in the vacuolar protein sorting 35 gene as a cause for an autosomal dominant form of Parkinson disease. Although additional missense variants were described, their pathogenic role yet remains inconclusive. Methods and results We performed the largest multi-center study to ascertain the frequency and pathogenicity of the reported vacuolar protein sorting 35 gene variants in more than 15,000 individuals worldwide. p.Asp620Asn was detected in 5 familial and 2 sporadic PD cases and not in healthy controls, p.Leu774Met in 6 cases and 1 control, p.Gly51Ser in 3 cases and 2 controls. Overall analyses did not reveal any sig…

MaleParkinson's diseasePopulationVesicular Transport ProteinsLocus (genetics)DiseaseBiologyVPS35 protein humanBioinformaticsgenetics [Vesicular Transport Proteins]genetics [Parkinson Disease]Risk Factorsmedicinemetabolism [Vesicular Transport Proteins]GeneticsMissense mutationVPS35 GeneHumansGenetic epidemiologyGenetic Predisposition to Diseaseddc:6101506Genome-wideeducationGenetics (clinical)Genetic Association StudiesGeneticsVacuolar protein sortingeducation.field_of_studyGenotype-Phenotype CorrelationsParkinson DiseaseComplex traitsmedicine.diseasePenetranceddc:MutationFemaleHuman medicineParkinson-s diseaseJournal of Medical Genetics
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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
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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
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First mitochondrial genome-wide association study with metabolomics.

2021

AbstractIn the era of personalized medicine with more and more patient-specific targeted therapies being used, we need reliable, dynamic, faster and sensitive biomarkers both to track the causes of disease and to develop and evolve therapies during the course of treatment. Metabolomics recently has shown substantial evidence to support its emerging role in disease diagnosis and prognosis. Aside from biomarkers and development of therapies, it is also an important goal to understand the involvement of mitochondrial DNA (mtDNA) in metabolic regulation, aging and disease development. Somatic mutations of the mitochondrial genome are also heavily implicated in age-related disease and aging. The…

GeneticsMitochondrial DNANucleotidesMetaboliteGeneral MedicineBiologyMitochondrionDNA MitochondrialHeteroplasmyMitochondriachemistry.chemical_compoundMetabolomicschemistryGeneticsMetabolomeGenetic predispositionPhosphatidylcholinesHumansMetabolomicsMolecular BiologyGeneGenetics (clinical)BiomarkersGenome-Wide Association StudyHuman molecular genetics
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Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

1998

DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them with features of DGS, and in a familial translocation 10p;14q associated with midline defects. The critical DGS2 region is defined by two DGS patients, and maps within a 1 cM interval including D10S547 and D10S585. The other seven DGS patients are hemizygous for both loci. The breakpoint of the reciprocal translocation 10p;14q maps at a dist…

MaleChromosomal translocationLocus (genetics)BiologyPolymerase Chain ReactionTranslocation Geneticlaw.inventionPtosislawDiGeorge syndromeDiGeorge SyndromeGeneticsmedicineHumansDeletion mappingIn Situ HybridizationGenetics (clinical)Polymerase chain reactionCell Line TransformedSequence DeletionGeneticsChromosomes Human Pair 10BreakpointInfant NewbornChromosome MappingInfantmedicine.diseaseFemalemedicine.symptomHaploinsufficiencyEuropean Journal of Human Genetics
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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Genome-wide association studies identify four ER negative-specific breast cancer risk loci

2013

Estrogen receptor (ER)-negative tumors represent 20-30% of all breast cancers, with a higher proportion occurring in younger women and women of African ancestry. The etiology and clinical behavior of ER-negative tumors are different from those of tumors expressing ER (ER positive), including differences in genetic predisposition. To identify susceptibility loci specific to ER-negative disease, we combined in a metaanalysis 3 genome-wide association studies of 4,193 ER-negative breast cancer cases and 35,194 controls with a series of 40 follow-up studies (6,514 cases and 41,455 controls), genotyped using a custom Illumina array, iCOGS, developed by the Collaborative Oncological Gene-environm…

Oncologygenetic associationbody-mass indexEstrogen receptorGenome-wide association studycancer riskBioinformaticssusceptibilitychromosome 1q0302 clinical medicineRisk Factorssingle nucleotide polymorphismGenotypeestrogenCooperative Behaviorcomparative studyOligonucleotide Array Sequence Analysis0303 health scienceschromosome 16q3. Good healthReceptors Estrogenpriority journal030220 oncology & carcinogenesisFemalecancer invasionsignal transductionbreast cancer; cancer invasion; cancer risk; chromosome 1; chromosome 16q; chromosome 1q; chromosome 2p; comparative study; follow up; gene locus; genetic association; genetic susceptibility; human; nucleotide sequence; priority journal; signal transduction; single nucleotide polymorphismmedicine.medical_specialtyGenotypegene locusBreast NeoplasmsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesBreast cancerbreast cancerMeta-Analysis as TopicSDG 3 - Good Health and Well-beingInternal medicineexpressionGeneticsmedicineGenetic predispositionHumansfollow upGenetic Predisposition to Diseasehumanchromosome 1gene030304 developmental biologyCase-control studyCancernucleotide sequencemedicine.diseasechromosome 2pGenetic LociCase-Control Studiescommon variantGenome-Wide Association Studygenetic susceptibilityNature Genetics
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Large-scale replication and heterogeneity in Parkinson disease genetic loci

2012

Objective: Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. Methods: Investigators from the Genetic Epidemiology of Parkinson9s Disease Consortium were invited to participate in the study. A total of 11 SNPs were genotyped in 8,750 cases and 8,955 controls. Fixed as well as random effects models were used to provide the summary risk estimates for these variants. We evaluated between-study heterogeneity and heterogeneity between populations of different ances…

MaleGenotypeSingle-nucleotide polymorphismGenome-wide association studyCase-control studiesBiologyPolymorphism Single NucleotideGene Frequencygenetics [Parkinson Disease]HumansGenetic Predisposition to Diseaseddc:610AlleleParkinson Disease/geneticsAllele frequencyAllelesGenetic associationAgedGeneticsMedicine(all)Case-control studyParkinson DiseaseOdds ratioMiddle Agedddc:616.8Genetic epidemiologyGenetic LociCase-Control StudiesFemaleNeurology (clinical)Human medicineGenome-Wide Association Study
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Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption

2015

Contains fulltext : 155360.pdf (Publisher’s version ) (Closed access) Coffee, a major dietary source of caffeine, is among the most widely consumed beverages in the world and has received considerable attention regarding health risks and benefits. We conducted a genome-wide (GW) meta-analysis of predominately regular-type coffee consumption (cups per day) among up to 91,462 coffee consumers of European ancestry with top single-nucleotide polymorphisms (SNPs) followed-up in ~30 062 and 7964 coffee consumers of European and African-American ancestry, respectively. Studies from both stages were combined in a trans-ethnic meta-analysis. Confirmed loci were examined for putative functional and b…

INVOLVEMENTNetherlands Twin Register (NTR)GCKR protein humanPROTEINGenome-wide association studyVARIANTSgenetics [Brain-Derived Neurotrophic Factor]chemistry.chemical_compound0302 clinical medicinePolymorphism (computer science)genetics [Adaptor Proteins Signal Transducing]BINDINGBRAINGenetics0303 health sciencesBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]3. Good healthPsychiatry and Mental healthPhenotypegenetics [Polymorphism Single Nucleotide]/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beinggenetics [Cytochrome P-450 CYP1A2]CaffeineCAFFEINESingle-nucleotide polymorphismBiologyArticle03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCytochrome P-450 CYP1A2/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_SNPHumansddc:610Allelegenetics [Basic Helix-Loop-Helix Leucine Zipper Transcription Factors]Molecular Biology030304 developmental biologyAdaptor Proteins Signal TransducingMLXIPL protein humanRECEPTORBrain-Derived Neurotrophic FactorCoffeata1182Feeding Behaviorbiology.organism_classificationta3124BDNFchemistryBehavioral medicineDevelopmental Psychopathology030217 neurology & neurosurgeryGLUCOKINASEmetabolism [Coffea]Genome-Wide Association StudyMolecular Psychiatry
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