2023
Uncommon Protein-Coding Variants Associated With Suicide Attempt in a Diverse Sample of U.S. Army Soldiers
Wilkerson M, Hupalo D, Gray J, Zhang X, Wang J, Girgenti M, Alba C, Sukumar G, Lott N, Naifeh J, Aliaga P, Kessler R, Turner C, Pollard H, Dalgard C, Ursano R, Stein M. Uncommon Protein-Coding Variants Associated With Suicide Attempt in a Diverse Sample of U.S. Army Soldiers. Biological Psychiatry 2023, 96: 15-25. PMID: 38141912, DOI: 10.1016/j.biopsych.2023.12.008.Peer-Reviewed Original ResearchSingle variant analysisProtein-coding variantsVariant analysisCommon genetic variantsWhole-genome sequencingMost genesWhole genomeGenome sequencingSignificant genesMolecular characterizationGenesGenetic variantsAncestry groupsGenetic risk factorsExomeYWHAERecent studiesVariantsATAD3ARC3H2EP400GenomeRcn2SGMS1STARD9STRESS IN A DISH: MODELING THE IMPACT OF COMMON GENETIC VARIATION ON STRESS RESPONSE IN HIPSC-DERIVED NEURONS IN PTSD
Seah C, Signer R, Young H, Kozik E, Rusielewicz T, Bader H, Xu C, de Pins A, Breen M, Paull D, Yehuda R, Girgenti M, Brennand K, Huckins L. STRESS IN A DISH: MODELING THE IMPACT OF COMMON GENETIC VARIATION ON STRESS RESPONSE IN HIPSC-DERIVED NEURONS IN PTSD. European Neuropsychopharmacology 2023, 75: s40. DOI: 10.1016/j.euroneuro.2023.08.081.Peer-Reviewed Original ResearchCommon genetic variationGenetic variationStress responseCell typesEQTL associationsTranscriptional stress responseGenomic risk lociTissue-specific mannerChIP-seq datasetsCell type deconvolutionCommon genetic variantsPost-mortem brainsGene expression signaturesHiPSC-derived neuronsTranscription factorsSuch lociCatalog genesRisk lociGenetic studiesExpression signaturesGenetic variantsRegulatory activityGenesEQTLsMechanistic understandingGenetic Decomposition of the Heritable Component of Reported Childhood Maltreatment
Kuile A, Hübel C, Cheesman R, Coleman J, Peel A, Levey D, Stein M, Gelernter J, Rayner C, Eley T, Breen G. Genetic Decomposition of the Heritable Component of Reported Childhood Maltreatment. Biological Psychiatry Global Open Science 2023, 3: 716-724. PMID: 37881567, PMCID: PMC10593925, DOI: 10.1016/j.bpsgos.2023.03.003.Peer-Reviewed Original ResearchGenetic componentGenomic structural equationGenome-wide association study summary statisticsCommon genetic variantsResidual genetic varianceGeneral risk toleranceGenetic variancePutative traitsHeritable componentBehavioral traitsGenetic correlationsTraitsGenetic variantsHeritable characteristicsHeritable factorsHeritabilityEnvironmental factorsDecades of researchGenetic influencesSummary statisticsPhenotype
2022
Age- and sex-specific associations between risk scores for schizophrenia and self-reported health in the general population
Paquin V, Pries L, ten Have M, Bak M, Gunther N, de Graaf R, van Dorsselaer S, Lin B, van Eijk K, Kenis G, Richards A, O’Donovan M, Luykx J, Rutten B, van Os J, Shah J, Guloksuz S. Age- and sex-specific associations between risk scores for schizophrenia and self-reported health in the general population. Social Psychiatry And Psychiatric Epidemiology 2022, 58: 43-52. PMID: 35913550, PMCID: PMC9845157, DOI: 10.1007/s00127-022-02346-3.Peer-Reviewed Original ResearchConceptsSex-specific associationsSelf-reported healthPRS-SCZES-SCZPhysical healthGeneral populationNetherlands Mental Health SurveyIncidence Study-2Mental Health SurveyHealth SurveyRisk scoreAge 65Common genetic variantsHealth correlatesAge 18Poor healthOlder individualsMental healthPolygenic riskLinear mixed modelsAgeSexExposome scoreHealthAssociationSuspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report
Acquarulo B, Tandon P, Macica C. Suspected cholinergic toxicity due to cevimeline hydrochloride and Bacopa monnieri interaction: a case report. Journal Of Medical Case Reports 2022, 16: 253. PMID: 35765109, PMCID: PMC9241182, DOI: 10.1186/s13256-022-03479-4.Peer-Reviewed Original ResearchConceptsSjögren's syndromePossible drug-herb interactionsPrimary care officesDrug-herb interactionsST-T changesCevimeline hydrochlorideClinical improvementUndesirable side effectsUrinary retentionCase presentationACare officesCase reportCholinergic toxicityCaucasian femaleHerbal supplementsSide effectsClinical relevanceDrug responsivenessCommon genetic variantsSyndromeDrugsPrevious nightCytochrome P450Genetic variantsSupplementation interactionThe genetic basis of Gilles de la Tourette syndrome
Abdallah S, Realbuto E, Kaka M, Yang K, Topaloudi A, Paschou P, Scharf J, Fernandez T. The genetic basis of Gilles de la Tourette syndrome. International Review Of Movement Disorders 2022, 4: 3-38. DOI: 10.1016/bs.irmvd.2022.07.001.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsGenome-wide association studiesGenetic architectureCell type-specific gene expressionAssociation studiesComplex genetic architectureSingle causative geneFull genetic architectureSpecific gene expressionCandidate gene association studiesComprehensive genomic studiesCommon variant effectsPleiotropic gene effectsCommon genetic variantsGene association studiesEpigenetic marksGene regulationIndividual genesGenomic studiesLarge-scale approachGenetic basisGene expressionWhole-exome sequencing analysisBiological processesBiological pathwaysMendelian inheritance
2021
PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans
Barak T, Ristori E, Ercan-Sencicek AG, Miyagishima DF, Nelson-Williams C, Dong W, Jin SC, Prendergast A, Armero W, Henegariu O, Erson-Omay EZ, Harmancı AS, Guy M, Gültekin B, Kilic D, Rai DK, Goc N, Aguilera SM, Gülez B, Altinok S, Ozcan K, Yarman Y, Coskun S, Sempou E, Deniz E, Hintzen J, Cox A, Fomchenko E, Jung SW, Ozturk AK, Louvi A, Bilgüvar K, Connolly ES, Khokha MK, Kahle KT, Yasuno K, Lifton RP, Mishra-Gorur K, Nicoli S, Günel M. PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans. Nature Medicine 2021, 27: 2165-2175. PMID: 34887573, PMCID: PMC8768030, DOI: 10.1038/s41591-021-01572-7.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesPeptidyl-prolyl cis-transPathogenesis of IAContribution of variantsCommon genetic variantsVertebrate modelDeleterious mutationsWnt activatorAssociation studiesWhole-exome sequencingSignificant enrichmentGenetic variantsWntAngiogenesis regulatorsMutationsGene mutationsBrain angiogenesisIntracranial aneurysm ruptureJMJD6AngiogenesisCerebrovascular morphologyCerebrovascular integrityIntracerebral hemorrhageAneurysm ruptureVariantsPolygenic risk for major depression is associated with lifetime suicide attempt in US soldiers independent of personal and parental history of major depression
Stein MB, Jain S, Campbell‐Sills L, Ware EB, Choi KW, He F, Ge T, Gelernter J, Smoller JW, Kessler RC, Ursano RJ. Polygenic risk for major depression is associated with lifetime suicide attempt in US soldiers independent of personal and parental history of major depression. American Journal Of Medical Genetics Part B Neuropsychiatric Genetics 2021, 186: 469-475. PMID: 34288400, PMCID: PMC8692314, DOI: 10.1002/ajmg.b.32868.Peer-Reviewed Original ResearchConceptsMajor depressive disorderLifetime suicide attemptsParental historySuicide attemptsMajor depressionMDD-PRSMultivariable modelLifetime historyMajor public health problemIncident suicide attemptsPolygenic riskPublic health problemUS Army soldiersRisk stratificationDepressive disorderPolygenic risk scoresRisk scoreSecond cohortHealth problemsCommon genetic variantsFirst cohortPersonal historyCohortGenetic variantsArmy soldiersApplying stem cells and CRISPR engineering to uncover the etiology of schizophrenia
Michael Deans P, Brennand K. Applying stem cells and CRISPR engineering to uncover the etiology of schizophrenia. Current Opinion In Neurobiology 2021, 69: 193-201. PMID: 34010781, PMCID: PMC8387340, DOI: 10.1016/j.conb.2021.04.003.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsCell type-specific fashionStem cell biologyType-specific fashionDisease-Associated VariantsNeural cell typesCommon genetic variantsMore genesCell biologyCRISPR engineeringGene manipulationGene targetsCRISPR technologyMolecular geneticsInvaluable advancesCell typesHiPSC technologyGenetic variantsStem cellsIndividual variantsEtiology of diseasePolygenic disorderVariantsComplex interactionsRecent advancesEtiology of schizophrenia
2019
A genome-wide association meta-analysis of prognostic outcomes following cognitive behavioural therapy in individuals with anxiety and depressive disorders
Rayner C, Coleman JRI, Purves KL, Hodsoll J, Goldsmith K, Alpers GW, Andersson E, Arolt V, Boberg J, Bögels S, Creswell C, Cooper P, Curtis C, Deckert J, Domschke K, El Alaoui S, Fehm L, Fydrich T, Gerlach AL, Grocholewski A, Hahlweg K, Hamm A, Hedman E, Heiervang ER, Hudson JL, Jöhren P, Keers R, Kircher T, Lang T, Lavebratt C, Lee SH, Lester KJ, Lindefors N, Margraf J, Nauta M, Pané-Farré CA, Pauli P, Rapee RM, Reif A, Rief W, Roberts S, Schalling M, Schneider S, Silverman WK, Ströhle A, Teismann T, Thastum M, Wannemüller A, Weber H, Wittchen HU, Wolf C, Rück C, Breen G, Eley TC. A genome-wide association meta-analysis of prognostic outcomes following cognitive behavioural therapy in individuals with anxiety and depressive disorders. Translational Psychiatry 2019, 9: 150. PMID: 31123309, PMCID: PMC6533285, DOI: 10.1038/s41398-019-0481-y.Peer-Reviewed Original ResearchConceptsCognitive behavioral therapyBehavioral therapyAnxiety disordersTherapy outcomeEvidence-based treatmentsPolygenic scoringMajor depressive disorderGenome-wide association studiesDepressive disorderGenome-wide associationStrong genetic correlationCommon genetic variantsComplex traitsSingle nucleotide polymorphismsWide associationStrongest predictorPsychopathologyAnxietyPersonalityGenetic overlapAssociation studiesGenetic correlationsGenetic variantsNucleotide polymorphismsDisordersExamining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study
Guloksuz S, Pries L, Delespaul P, Kenis G, Luykx J, Lin B, Richards A, Akdede B, Binbay T, Altınyazar V, Yalınçetin B, Gümüş‐Akay G, Cihan B, Soygür H, Ulaş H, Cankurtaran E, Kaymak S, Mihaljevic M, Petrovic S, Mirjanic T, Bernardo M, Cabrera B, Bobes J, Saiz P, García‐Portilla M, Sanjuan J, Aguilar E, Santos J, Jiménez‐López E, Arrojo M, Carracedo A, López G, González‐Peñas J, Parellada M, Maric N, Atbaşog˘lu C, Ucok A, Alptekin K, Saka M, investigators G, Arango C, O'Donovan M, Rutten B, van Os J. Examining the independent and joint effects of molecular genetic liability and environmental exposures in schizophrenia: results from the EUGEI study. World Psychiatry 2019, 18: 173-182. PMID: 31059627, PMCID: PMC6502485, DOI: 10.1002/wps.20629.Peer-Reviewed Original ResearchSchizophrenia spectrum disordersEnvironmental exposuresGene-environment interactionsEtiopathogenesis of schizophreniaAdditive interactionEarly life adversityEarly TwinSeason of birthPolygenic risk scoresSpectrum disorderMultiple common genetic variantsRisk scoreRegular cannabisLifetime historyJoint associationsPRS-SCZCommon genetic variantsHearing impairmentSchizophreniaUnrelated controlsEUGEI studyDisordersFamily studiesGenetic liabilityRisk stateCommon genetic variants have associations with human cortical brain regions and risk of schizophrenia
Bi X, Feng L, Wang S, Lin Z, Li T, Zhao B, Zhu H, Zhang H. Common genetic variants have associations with human cortical brain regions and risk of schizophrenia. Genetic Epidemiology 2019, 43: 548-558. PMID: 30941828, PMCID: PMC6559856, DOI: 10.1002/gepi.22203.Peer-Reviewed Original ResearchConceptsCortical regionsCortical brain regionsRisk of schizophreniaPrefrontal cortical regionsSymptom durationProdromal symptomsMental disordersSignificant associationBrain regionsCommon genetic variantsPhiladelphia Neurodevelopmental CohortPediatric imagingSchizophreniaNeurodevelopmental CohortCommon variantsHuman brainGenetic variantsHeritable mental disorderMagnetic resonanceAssociationWide association studyAssociation studiesGenetic effectsCohortSymptomsGenetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes
Drange O, Smeland O, Shadrin A, Finseth P, Witoelar A, Frei O, Group P, Wang Y, Hassani S, Djurovic S, Dale A, Andreassen O, Stahl E, Breen G, Forstner A, McQuillin A, Ripke S, Trubetskoy V, Mattheisen M, Wang Y, Coleman J, Gaspar H, de Leeuw C, Steinberg S, Pavlides J, Trzaskowski M, Pers T, Holmans P, Abbott L, Agerbo E, Akil H, Albani D, Alliey-Rodriguez N, Als T, Anjorin A, Antilla V, Awasthi S, Badner J, Bækvad-Hansen M, Barchas J, Bass N, Bauer M, Belliveau R, Bergen S, Pedersen C, Bøen E, Boks M, Boocock J, Budde M, Bunney W, Burmeister M, Bybjerg-Grauholm J, Byerley W, Casas M, Cerrato F, Cervantes P, Chambert K, Charney A, Chen D, Churchhouse C, Clarke T, Coryell W, Craig D, Cruceanu C, Curtis D, Czerski P, Dale A, de Jong S, Degenhardt F, Del-Favero J, DePaulo J, Djurovic S, Dobbyn A, Dumont A, Elvsåshagen T, Escott-Price V, Fan C, Fischer S, Flickinger M, Foroud T, Forty L, Frank J, Fraser C, Freimer N, Friseìn L, Gade K, Gage D, Garnham J, Giambartolomei C, Pedersen M, Goldstein J, Gordon S, Gordon-Smith K, Green E, Green M, Greenwood T, Grove J, Guan W, Parra J, Hamshere M, Hautzinger M, Heilbronner U, Herms S, Hipolito M, Hoffmann P, Holland D, Huckins L, Jamain S, Johnson J, Jureìus A, Kandaswamy R, Karlsson R, Kennedy J, Kittel-Schneider S, Knott S, Knowles J, Kogevinas M, Koller A, Kupka R, Lavebratt C, Lawrence J, Lawson W, Leber M, Lee P, Levy S, Li J, Liu C, Lucae S, Maaser A, MacIntyre D, Mahon P, Maier W, Martinsson L, McCarroll S, McGuffin P, McInnis M, McKay J, Medeiros H, Medland S, Meng F, Milani L, Montgomery G, Morris D, Mühleisen T, Mullins N, Nguyen H, Nievergelt C, Adolfsson A, Nwulia E, O’Donovan C, Loohuis L, Ori A, Oruc L, Ösby U, Perlis R, Perry A, Pfennig A, Potash J, Purcell S, Regeer E, Reif A, Reinbold C, Rice J, Rivas F, Rivera M, Roussos P, Ruderfer D, Ryu E, Saìnchez-Mora C, Schatzberg A, Scheftner W, Schork N, Weickert C, Shehktman T, Shilling P, Sigurdsson E, Slaney C, Smeland O, Sobell J, Hansen C, Spijker A, St Clair D, Steffens M, Strauss J, Streit F, Strohmaier J, Szelinger S, Thompson R, Thorgeirsson T, Treutlein J, Vedder H, Wang W, Watson S, Weickert T, Witt S, Xi S, Xu W, Young A, Zandi P, Zhang P, Zollner S, Adolfsson R, Agartz I, Alda M, Backlund L, Baune B, Bellivier F, Berrettini W, Biernacka J, Blackwood D, Boehnke M, Børglum A, Corvin A, Craddock N, Daly M, Dannlowski U, Esko T, Etain B, Frye M, Fullerton J, Gershon E, Gill M, Goes F, Grigoroiu-Serbanescu M, Hauser J, Hougaard D, Hultman C, Jones I, Jones L, Kahn R, Kirov G, Landeìn M, Leboyer M, Lewis C, Li Q, Lissowska J, Martin N, Mayoral F, McElroy S, McIntosh A, McMahon F, Melle I, Metspalu A, Mitchell P, Morken G, Mors O, Mortensen P, Müller-Myhsok B, Myers R, Neale B, Nimgaonkar V, Nordentoft M, Nöthen M, O’Donovan M, Oedegaard K, Owen M, Paciga S, Pato C, Pato M, Posthuma D, Ramos-Quiroga J, Ribaseìs M, Rietschel M, Rouleau G, Schalling M, Schofield P, Schulze T, Serretti A, Smoller J, Stefansson H, Stefansson K, Stordal E, Sullivan P, Turecki G, Vaaler A, Vieta E, Vincent J, Werge T, Nurnberger J, Wray N, Di Florio A, Edenberg H, Cichon S, Ophoff R, Scott L, Andreassen O, Kelsoe J, Sklar P. Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes. Frontiers In Neuroscience 2019, 13: 220. PMID: 30930738, PMCID: PMC6425305, DOI: 10.3389/fnins.2019.00220.Peer-Reviewed Original ResearchCommon genetic variantsNovel lociGenetic variantsGenetic overlapPolygenic overlapGenome-wide associationNovel genomic lociNumerous common genetic variantsGenomic lociComplex traitsWide associationGenesLociInternational GenomicsGenetic originTraitsAlzheimer's diseaseImplicatingVariantsGenomicsOverlapBipolar disorderDistinct featuresFurther studies
2018
Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
Demontis D, Walters RK, Martin J, Mattheisen M, Als TD, Agerbo E, Baldursson G, Belliveau R, Bybjerg-Grauholm J, Bækvad-Hansen M, Cerrato F, Chambert K, Churchhouse C, Dumont A, Eriksson N, Gandal M, Goldstein JI, Grasby KL, Grove J, Gudmundsson OO, Hansen CS, Hauberg ME, Hollegaard MV, Howrigan DP, Huang H, Maller JB, Martin AR, Martin NG, Moran J, Pallesen J, Palmer DS, Pedersen CB, Pedersen MG, Poterba T, Poulsen JB, Ripke S, Robinson EB, Satterstrom FK, Stefansson H, Stevens C, Turley P, Walters GB, Won H, Wright MJ, Andreassen O, Asherson P, Burton C, Boomsma D, Cormand B, Dalsgaard S, Franke B, Gelernter J, Geschwind D, Hakonarson H, Haavik J, Kranzler H, Kuntsi J, Langley K, Lesch K, Middeldorp C, Reif A, Rohde L, Roussos P, Schachar R, Sklar P, Sonuga-Barke E, Sullivan P, Thapar A, Tung J, Waldman I, Medland S, Stefansson K, Nordentoft M, Hougaard D, Werge T, Mors O, Mortensen P, Daly M, Faraone S, Børglum A, Neale B. Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics 2018, 51: 63-75. PMID: 30478444, PMCID: PMC6481311, DOI: 10.1038/s41588-018-0269-7.Peer-Reviewed Original ResearchConceptsGenome-wide significant risk lociFunction intolerant genesGenome-wide associationSignificant risk lociGenome-wide significanceAttention-deficit/hyperactivity disorderCommon genetic variantsGenomic regionsIntolerant genesIndependent lociRegulatory marksHeritable traitRisk lociDeficit/hyperactivity disorderGenetic variantsGenetic overlapStudy-specific differencesLociHyperactivity disorderImportant new informationUnderlying biologyChildhood behavioral disordersVariantsStrong concordanceGWASChapter 46 Multiple sclerosis
Cotsapas C, Mitrovic M, Hafler D. Chapter 46 Multiple sclerosis. Handbook Of Clinical Neurology 2018, 148: 723-730. PMID: 29478610, DOI: 10.1016/b978-0-444-64076-5.00046-6.Peer-Reviewed Original ResearchConceptsMultiple sclerosisCentral nervous system white matterNervous system white matterAutoimmune neurologic disordersDisease-modifying therapiesImmune function modulationSpecific immune subsetsCentral nervous systemGenetic variantsImmune subsetsNeurologic symptomsAutoimmune attackLeading causeNeurologic disordersNervous systemWhite matterCommon genetic variantsOverall riskSclerosisYoung adultsEnvironmental exposuresRiskSymptomsDiseasePatients
2016
A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury
Zhao B, Lu Q, Cheng Y, Belcher JM, Siew ED, Leaf DE, Body SC, Fox AA, Waikar SS, Collard CD, Thiessen-Philbrook H, Ikizler TA, Ware LB, Edelstein CL, Garg AX, Choi M, Schaub JA, Zhao H, Lifton RP, Parikh CR. A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney Injury. American Journal Of Respiratory And Critical Care Medicine 2016, 195: 482-490. PMID: 27576016, PMCID: PMC5378420, DOI: 10.1164/rccm.201603-0518oc.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAdultAgedApolipoprotein L1ApolipoproteinsBiomarkersCardiac Surgical ProceduresCase-Control StudiesCritical IllnessFemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansIntensive Care UnitsInterferon Regulatory Factor-2Lipoproteins, HDLMaleMiddle AgedPolymorphism, Single NucleotidePostoperative ComplicationsRisk FactorsStatistics, NonparametricT-Box Domain ProteinsConceptsAcute kidney injuryGenome-wide association studiesSingle nucleotide polymorphismsKidney injuryGenetic lociAssociation studiesExploratory genome-wide association studyAcute kidney injury casesHospital acute kidney injuryCommon genetic variantsIndependent lociGene TBX1Chromosome 4Novel pathwayCritical illnessCardiac surgerySevere complicationsLociPatient populationTherapeutic advancesGenetic variantsGenotype imputationInjury casesExpedite recoveryInjuryAssociation of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study
Childs EJ, Chaffee KG, Gallinger S, Syngal S, Schwartz AG, Cote ML, Bondy ML, Hruban RH, Chanock SJ, Hoover RN, Fuchs CS, Rider DN, Amundadottir LT, Stolzenberg-Solomon R, Wolpin BM, Risch HA, Goggins MG, Petersen GM, Klein AP. Association of Common Susceptibility Variants of Pancreatic Cancer in Higher-Risk Patients: A PACGENE Study. Cancer Epidemiology Biomarkers & Prevention 2016, 25: 1185-1191. PMID: 27197284, PMCID: PMC5321211, DOI: 10.1158/1055-9965.epi-15-1217.Peer-Reviewed Original ResearchConceptsHigh-risk populationPancreatic cancerEarly onset pancreatic cancerPancreatic cancer familiesHigh-risk patientsMagnitude of associationHigh-penetrance genesGenetic variantsPancreatic cancer susceptibilityUnselected patientsFamily historyProstate cancerColon cancerCommon genetic variantsCancerCancer familiesLogistic regressionCancer susceptibilityCancer susceptibility lociPatientsCancer lociOvarianCommon variantsBreastRisk
2015
Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer
Lawrenson K, Iversen ES, Tyrer J, Weber RP, Concannon P, Hazelett DJ, Li Q, Marks JR, Berchuck A, Lee JM, Aben KK, Anton-Culver H, Antonenkova N, Bandera E, Bean Y, Beckmann M, Bisogna M, Bjorge L, Bogdanova N, Brinton L, Brooks-Wilson A, Bruinsma F, Butzow R, Campbell I, Carty K, Chang-Claude J, Chenevix-Trench G, Chen A, Chen Z, Cook L, Cramer D, Cunningham J, Cybulski C, Plisiecka-Halasa J, Dennis J, Dicks E, Doherty J, Dörk T, du Bois A, Eccles D, Easton D, Edwards R, Eilber U, Ekici A, Fasching P, Fridley B, Gao Y, Gentry-Maharaj A, Giles G, Glasspool R, Goode E, Goodman M, Gronwald J, Harter P, Hasmad H, Hein A, Heitz F, Hildebrandt M, Hillemanns P, Hogdall E, Hogdall C, Hosono S, Jakubowska A, Paul J, Jensen A, Karlan B, Kjaer S, Kelemen L, Kellar M, Kelley J, Kiemeney L, Krakstad C, Lambrechts D, Lambrechts S, Le N, Lee A, Cannioto R, Leminen A, Lester J, Levine D, Liang D, Lissowska J, Lu K, Lubinski J, Lundvall L, Massuger L, Matsuo K, McGuire V, McLaughlin J, Nevanlinna H, McNeish I, Menon U, Modugno F, Moysich K, Narod S, Nedergaard L, Ness R, Azmi M, Odunsi K, Olson S, Orlow I, Orsulic S, Pearce C, Pejovic T, Pelttari L, Permuth-Wey J, Phelan C, Pike M, Poole E, Ramus S, Risch H, Rosen B, Rossing M, Rothstein J, Rudolph A, Runnebaum I, Rzepecka I, Salvesen H, Budzilowska A, Sellers T, Shu X, Shvetsov Y, Siddiqui N, Sieh W, Song H, Southey M, Sucheston L, Tangen I, Teo S, Terry K, Thompson P, Timorek A, Tworoger S, Van Nieuwenhuysen E, Vergote I, Vierkant R, Wang-Gohrke S, Walsh C, Wentzensen N, Whittemore A, Wicklund K, Wilkens L, Woo Y, Wu X, Wu A, Yang H, Zheng W, Ziogas A, Coetzee G, Freedman M, Monteiro A, Moes-Sosnowska J, Kupryjanczyk J, Pharoah P, Gayther S, Schildkraut J. Common variants at the CHEK2 gene locus and risk of epithelial ovarian cancer. Carcinogenesis 2015, 36: 1341-1353. PMID: 26424751, PMCID: PMC4635670, DOI: 10.1093/carcin/bgv138.Peer-Reviewed Original ResearchConceptsGene locusCommon variantsGenome-wide association studiesAdditional risk variantsDNA repair genesCommon genetic variantsImputation of genotypesCancer Genome Atlas (TCGA) datasetFunctional annotationGenomic regionsTranscription factorsRegulatory elementsNormal fallopian tube tissuesGenome ProjectCausal variantsPrecursor tissueGene expressionSerous epithelial ovarian cancerCandidate SNPsAssociation studiesAdditional genotypingRepair genesSusceptibility genesRisk variantsGenetic variantsGenetic variants in the CPNE5 gene are associated with alcohol dependence and obesity in Caucasian populations
Wang KS, Zuo L, Pan Y, Xie C, Luo X. Genetic variants in the CPNE5 gene are associated with alcohol dependence and obesity in Caucasian populations. Journal Of Psychiatric Research 2015, 71: 1-7. PMID: 26522866, DOI: 10.1016/j.jpsychires.2015.09.008.Peer-Reviewed Original ResearchConceptsAlcohol dependenceSingle nucleotide polymorphismsMultiple logistic regression analysisMarshfield sampleRisk of obesityLogistic regression analysisCentral nervous systemGenetic variantsObesityNervous systemCommon genetic variantsAlcohol addictionCaucasian populationRegression analysisPLINK softwareGenetic associationV geneFirst evidenceAssociationCaucasian samplesGenetic componentPopulationGenome-wide association study of colorectal cancer identifies six new susceptibility loci
Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M, Rennert HS, Shi W, Thomas DC, Van Den Berg DJ, Hutter CM, Aragaki AK, Butterbach K, Caan BJ, Carlson CS, Chanock SJ, Curtis KR, Fuchs CS, Gala M, Giovannucci EL, Gogarten SM, Hayes RB, Henderson B, Hunter DJ, Jackson RD, Kolonel LN, Kooperberg C, Küry S, LaCroix A, Laurie CC, Laurie CA, Lemire M, Levine D, Ma J, Makar KW, Qu C, Taverna D, Ulrich CM, Wu K, Kono S, West DW, Berndt SI, Bezieau S, Brenner H, Campbell PT, Chan AT, Chang-Claude J, Coetzee GA, Conti DV, Duggan D, Figueiredo JC, Fortini BK, Gallinger SJ, Gauderman WJ, Giles G, Green R, Haile R, Harrison TA, Hoffmeister M, Hopper JL, Hudson TJ, Jacobs E, Iwasaki M, Jee SH, Jenkins M, Jia WH, Joshi A, Li L, Lindor NM, Matsuo K, Moreno V, Mukherjee B, Newcomb PA, Potter JD, Raskin L, Rennert G, Rosse S, Severi G, Schoen RE, Seminara D, Shu XO, Slattery ML, Tsugane S, White E, Xiang YB, Zanke BW, Zheng W, Le Marchand L, Casey G, Gruber SB, Peters U. Genome-wide association study of colorectal cancer identifies six new susceptibility loci. Nature Communications 2015, 6: 7138. PMID: 26151821, PMCID: PMC4967357, DOI: 10.1038/ncomms8138.Peer-Reviewed Original ResearchConceptsNew susceptibility lociAssociation studiesSusceptibility lociSignificant genetic lociGenome-wide association studiesGenome-wide thresholdCommon genetic variantsRare pathogenic mutationsTwo-stage association studyGenetic lociGenetic epidemiology studiesGenetic variantsLociUnderlying biological mechanismsPathogenic mutationsBiological mechanismsAsian ConsortiumGenetic susceptibilityMutationsAdditional insightColorectal cancerCancerVariants
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