0000000000237196

AUTHOR

Stephen Newhouse

showing 4 related works from this author

Large-Scale Gene-Centric Meta-Analysis across 39 Studies Identifies Type 2 Diabetes Loci

2012

To identify genetic factors contributing to type 2 diabetes (T2D), we performed large-scale meta-analyses by using a custom ∼50,000 SNP genotyping array (the ITMAT-Broad-CARe array) with ∼2000 candidate genes in 39 multiethnic population-based studies, case-control studies, and clinical trials totaling 17,418 cases and 70,298 controls. First, meta-analysis of 25 studies comprising 14,073 cases and 57,489 controls of European descent confirmed eight established T2D loci at genome-wide significance. In silico follow-up analysis of putative association signals found in independent genome-wide association studies (including 8,130 cases and 38,987 controls) performed by the DIAGRAM consortium id…

AdultMaleCandidate geneSNP ARRAYAdolescentGenotypeSUSCEPTIBILITY LOCI030209 endocrinology & metabolismGenome-wide association studySingle-nucleotide polymorphismLocus (genetics)BLOOD-PRESSUREBiologyPolymorphism Single NucleotideArticleYoung Adult03 medical and health sciences0302 clinical medicineEthnicityGeneticsHumansEUROPEAN AMERICANSGenetic Predisposition to DiseaseRESOURCE CAREGenetics(clinical)GENOME-WIDE ASSOCIATIONGenetics (clinical)Aged030304 developmental biologyGenetic associationAged 80 and overGeneticsAFRICAN-AMERICANS0303 health sciencesINSULIN-RESISTANCECOMMON VARIANTSMiddle Aged3. Good healthSNP genotypingDiabetes Mellitus Type 2Genetic LociCase-Control StudiesRISK-FACTORSFemaleTCF7L2Follow-Up StudiesGenome-Wide Association StudySNP array
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Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

2018

© 2018 Elsevier Inc.

MaleAls geneGenome-wide association studyFAMILIAL ALSALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS0302 clinical medicine80 and overPsychologyGWASKIF5AAetiologycargoAged 80 and over0303 health sciencesFrench ALS ConsortiumKinesinKINESIN HEAVY-CHAINCognitive Sciencesaxonal transportHumanHereditary spastic paraplegiaNeuroscience(all)Single-nucleotide polymorphismTARGETED DISRUPTIONArticle03 medical and health sciencesGeneticsHumansAmino Acid SequenceLoss functionAgedHEXANUCLEOTIDE REPEATNeuroscience (all)MUTATIONSAmyotrophic Lateral Sclerosis3112 Neurosciences1702 Cognitive Sciencemedicine.diseaseITALSGEN ConsortiumAnswer ALS Foundation030104 developmental biologyALS Sequencing ConsortiumHuman medicine1109 Neurosciences030217 neurology & neurosurgery0301 basic medicineALS; GWAS; KIF5A; WES; WGS; axonal transport; cargo[SDV]Life Sciences [q-bio]KinesinsNeurodegenerativeGenetic analysisGenomeAMYOTROPHIC-LATERAL-SCLEROSIS3124 Neurology and psychiatryCohort StudiesPathogenesisLoss of Function MutationMissense mutation2.1 Biological and endogenous factorsAmyotrophic lateral sclerosisNYGC ALS ConsortiumGeneticsGeneral NeuroscienceALS axonal transport cargo GWAS KIF5A WES WGSMiddle AgedPhenotypeSettore MED/26 - NEUROLOGIANeurologicalProject MinE ALS Sequencing ConsortiumKinesinWESFemaleAdultBiologyGENOTYPE IMPUTATIONALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Adult; Aged; Aged 80 and over; Amino Acid Sequence; Amyotrophic Lateral Sclerosis; Cohort Studies; Female; Genome-Wide Association Study; Humans; Kinesin; Loss of Function Mutation; Male; Middle Aged; Young AdultNOYoung AdultRare DiseasesmedicineSLAGEN ConsortiumGene030304 developmental biologyClinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) ConsortiumNeurology & NeurosurgeryHuman GenomeNeurosciencesAXONAL-TRANSPORTBrain DisordersALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS;Family memberDNA-DAMAGEMOTOR-NEURONS3111 BiomedicineCohort StudieALSGenomic Translation for ALS Care (GTAC) ConsortiumWGSAmyotrophic Lateral SclerosiGenome-Wide Association StudyALS; axonal transport; cargo; GWAS; KIF5A; WES; WGS; Neuroscience (all)
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Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

2015

G.B. and S.N. acknowledge funding support for this work from the National Institute for Health Research (NIHR) Mental Health Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King's College London. P.H.L. is supported by US National Institute of Mental Health (NIMH) grant K99MH101367. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an an…

Netherlands Twin Register (NTR)Statistical methodsAutismMedizinLOCIGenome-wide association studyheritabilityGenome-wide association studiesHistonesGenètica mèdica0302 clinical medicineHistone methylationDatabases Genetic2.1 Biological and endogenous factorsPsychologyGWASAetiologyPsychiatric geneticsR2Cbipolar disorderPsychiatry0303 health sciencesDisordersLociDepressionGeneral NeuroscienceMental DisordersMedical geneticsMETHYLATIONBrain3rd-DASSerious Mental IllnessPsychiatric Disorders3. Good healthHistoneMental HealthSchizophreniaMental DisorderCognitive Sciences[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]PromotersBDCBURDENRC0321 Neuroscience. Biological psychiatry. NeuropsychiatryHumanSignal Transductionmedicine.medical_specialtyDISORDERSGenomicsNetwork and Pathway Analysis Subgroup of Psychiatric Genomics ConsortiumBurdenBiologyMethylationArticleBiological pathwayPROMOTERS03 medical and health sciencesDatabasesGeneticmedicineGenetics/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_HumansGenetic Predisposition to Diseasehistone methylationBipolar disorderPsiquiatriaAUTISMPsychiatry030304 developmental biologyGenetic associationNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Neurology & NeurosurgeryNeuroscience (all)Human GenomeNeurosciencesmedicine.diseaseBrain DisordersGood Health and Well BeingDE-NOVO MUTATIONSPerturbações do Desenvolvimento Infantil e Saúde MentalRC0321SchizophreniaGenome-wide Association StudiesDe-novo mutationsmajor depressionNeuroscience030217 neurology & neurosurgeryGenome-Wide Association Study
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Applying polygenic risk scoring for psychiatric disorders to a large family with bipolar disorder and major depressive disorder

2018

Psychiatric disorders are thought to have a complex genetic pathology consisting of interplay of common and rare variation. Traditionally, pedigrees are used to shed light on the latter only, while here we discuss the application of polygenic risk scores to also highlight patterns of common genetic risk. We analyze polygenic risk scores for psychiatric disorders in a large pedigree (n ~ 260) in which 30% of family members suffer from major depressive disorder or bipolar disorder. Studying patterns of assortative mating and anticipation, it appears increased polygenic risk is contributed by affected individuals who married into the family, resulting in an increasing genetic risk over generat…

Netherlands Twin Register (NTR)0301 basic medicineMajor Depressive Disorder and Bipolar Disorder Working Groups of the Psychiatric Genomics ConsortiumBipolar DisorderSAMPLEMedicine (miscellaneous)Pedigree chartDisease0302 clinical medicineSCHIZOPHRENIA2.1 Biological and endogenous factorsMedicineAetiologyANTICIPATIONlcsh:QH301-705.5Psychiatry0303 health sciencesDepressionASSOCIATIONSerious Mental IllnessPeer reviewMental HealthSchizophrenia/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingMajor depressive disorderGeneral Agricultural and Biological SciencesEngineering sciences. Technologymedicine.medical_specialtyContext (language use)ArticlePsykiatriGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAGESDG 3 - Good Health and Well-beingddc:570Behavioral and Social Science/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_GeneticsPLINKGenetic TestingBipolar disorderPsychiatryBiology030304 developmental biologybusiness.industryPreventionHuman GenomeAssortative matingmedicine.diseaseBrain Disorders030104 developmental biologyMoodlcsh:Biology (General)Mood disordersAnticipation (genetics)ONSETHuman medicinebusiness030217 neurology & neurosurgery
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