2020
A large-scale genome-wide association study meta-analysis of cannabis use disorder
Johnson EC, Demontis D, Thorgeirsson TE, Walters RK, Polimanti R, Hatoum AS, Sanchez-Roige S, Paul SE, Wendt FR, Clarke TK, Lai D, Reginsson GW, Zhou H, He J, Baranger DAA, Gudbjartsson DF, Wedow R, Adkins DE, Adkins AE, Alexander J, Bacanu SA, Bigdeli TB, Boden J, Brown SA, Bucholz KK, Bybjerg-Grauholm J, Corley RP, Degenhardt L, Dick DM, Domingue BW, Fox L, Goate AM, Gordon SD, Hack LM, Hancock DB, Hartz SM, Hickie IB, Hougaard DM, Krauter K, Lind PA, McClintick JN, McQueen MB, Meyers JL, Montgomery GW, Mors O, Mortensen PB, Nordentoft M, Pearson JF, Peterson RE, Reynolds MD, Rice JP, Runarsdottir V, Saccone NL, Sherva R, Silberg JL, Tarter RE, Tyrfingsson T, Wall TL, Webb BT, Werge T, Wetherill L, Wright MJ, Zellers S, Adams MJ, Bierut LJ, Boardman JD, Copeland WE, Farrer LA, Foroud TM, Gillespie NA, Grucza RA, Harris KM, Heath AC, Hesselbrock V, Hewitt JK, Hopfer CJ, Horwood J, Iacono WG, Johnson EO, Kendler KS, Kennedy MA, Kranzler HR, Madden PAF, Maes HH, Maher BS, Martin NG, McGue M, McIntosh AM, Medland SE, Nelson EC, Porjesz B, Riley BP, Stallings MC, Vanyukov MM, Vrieze S, Workgroup P, Walters R, Polimanti R, Johnson E, McClintick J, Hatoum A, He J, Wendt F, Zhou H, Adams M, Adkins A, Aliev F, Bacanu S, Batzler A, Bertelsen S, Biernacka J, Bigdeli T, Chen L, Clarke T, Chou Y, Degenhardt F, Docherty A, Edwards A, Fontanillas P, Foo J, Fox L, Frank J, Giegling I, Gordon S, Hack L, Hartmann A, Hartz S, Heilmann-Heimbach S, Herms S, Hodgkinson C, Hoffman P, Hottenga J, Kennedy M, Alanne-Kinnunen M, Konte B, Lahti J, Lahti-Pulkkinen M, Lai D, Ligthart L, Loukola A, Maher B, Mbarek H, McIntosh A, McQueen M, Meyers J, Milaneschi Y, Palviainen T, Pearson J, Peterson R, Ripatti S, Ryu E, Saccone N, Salvatore J, Sanchez-Roige S, Schwandt M, Sherva R, Streit F, Strohmaier J, Thomas N, Wang J, Webb B, Wedow R, Wetherill L, Wills A, Boardman J, Chen D, Choi D, Copeland W, Culverhouse R, Dahmen N, Degenhardt L, Domingue B, Elson S, Frye M, Gäbel W, Hayward C, Ising M, Keyes M, Kiefer F, Kramer J, Kuperman S, Lucae S, Lynskey M, Maier W, Mann K, Männistö S, Müller-Myhsok B, Murray A, Nurnberger J, Palotie A, Preuss U, Räikkönen K, Reynolds M, Ridinger M, Scherbaum N, Schuckit M, Soyka M, Treutlein J, Witt S, Wodarz N, Zill P, Adkins D, Boden J, Boomsma D, Bierut L, Brown S, Bucholz K, Cichon S, Costello E, de Wit H, Diazgranados N, Dick D, Eriksson J, Farrer L, Foroud T, Gillespie N, Goate A, Goldman D, Grucza R, Hancock D, Harris K, Heath A, Hesselbrock V, Hewitt J, Hopfer C, Horwood J, Iacono W, Johnson E, Kaprio J, Karpyak V, Kendler K, Kranzler H, Krauter K, Lichtenstein P, Lind P, McGue M, MacKillop J, Madden P, Maes H, Magnusson P, Martin N, Medland S, Montgomery G, Nelson E, Nöthen M, Palmer A, Pederson N, Penninx B, Porjesz B, Rice J, Rietschel M, Riley B, Rose R, Rujescu D, Shen P, Silberg J, Stallings M, Tarter R, Vanyukov M, Vrieze S, Wall T, Whitfield J, Zhao H, Neale B, Gelernter J, Edenberg H, Agrawal A, Davis L, Bogdan R, Gelernter J, Edenberg H, Stefansson K, Børglum A, Agrawal A. A large-scale genome-wide association study meta-analysis of cannabis use disorder. The Lancet Psychiatry 2020, 7: 1032-1045. PMID: 33096046, PMCID: PMC7674631, DOI: 10.1016/s2215-0366(20)30339-4.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesAssociation studiesGenome-wide significant lociLarge-scale genome-wide association studiesGenetic correlationsChromosome 7 locusTraits of interestLarge genome-wide association studiesLinkage disequilibrium score regressionChromosome 8 locusDifferent genetic underpinningsDifferent genetic correlationsWellcome Trust Case Control ConsortiumDisequilibrium score regressionNovel genetic variantsStrong genetic componentSignificant lociGenetic lociGenetic underpinningsGenetic componentLociScore regressionGenetic variantsGenetic overlapIntegrative sequencing
2015
Effects of norepinephrine transporter gene variants on NET binding in ADHD and healthy controls investigated by PET
Sigurdardottir HL, Kranz GS, Rami‐Mark C, James GM, Vanicek T, Gryglewski G, Kautzky A, Hienert M, Traub‐Weidinger T, Mitterhauser M, Wadsak W, Hacker M, Rujescu D, Kasper S, Lanzenberger R. Effects of norepinephrine transporter gene variants on NET binding in ADHD and healthy controls investigated by PET. Human Brain Mapping 2015, 37: 884-895. PMID: 26678348, PMCID: PMC4949568, DOI: 10.1002/hbm.23071.Peer-Reviewed Original ResearchMeSH KeywordsAdultAttention Deficit Disorder with HyperactivityBrainBrain MappingCohort StudiesFemaleGenotyping TechniquesHumansLinkage DisequilibriumMaleMorpholinesNorepinephrine Plasma Membrane Transport ProteinsPolymorphism, Single NucleotidePositron-Emission TomographyPromoter Regions, GeneticRadiopharmaceuticalsSpectrometry, Mass, Matrix-Assisted Laser Desorption-IonizationConceptsAttention deficit hyperactivity disorderPositron emission tomographyHealthy controlsNorepinephrine transporterSingle nucleotide polymorphismsAllele carriersMajor alleleFunctional promoter single nucleotide polymorphismsMajor allele carriersMinor allele carriersPromoter single nucleotide polymorphismsNET geneSymptoms of hyperactivityTransporter gene variantsLinear mixed model analysisDeficit hyperactivity disorderAdult patientsGenotype-dependent differencesADHD treatmentMixed model analysisMALDI-TOF platformADHD patientsStrong genetic componentEmission tomographyBPND
2011
An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males
Chung R, Ma D, Wang K, Hedges D, Jaworski J, Gilbert J, Cuccaro M, Wright H, Abramson R, Konidari I, Whitehead P, Schellenberg G, Hakonarson H, Haines J, Pericak-Vance M, Martin E. An X chromosome-wide association study in autism families identifies TBL1X as a novel autism spectrum disorder candidate gene in males. Molecular Autism 2011, 2: 18. PMID: 22050706, PMCID: PMC3305893, DOI: 10.1186/2040-2392-2-18.Peer-Reviewed Original ResearchX chromosome-wide association studyX chromosomeGenome-wide association study dataCase-control data setsAutism spectrum disorder (ASD) candidate geneChromosome-wide significanceGWAS data setsAssociation study dataReplication analysisDiscovery data setFamily data setsStrong genetic componentSame geneCandidate genesTransducin βAssociation studiesGenesXp22.3 regionLinkage disequilibriumGenetic componentSusceptibility genesAutism familiesSkewed prevalenceSNPsReplication thresholdInterrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex
Zuvich RL, Bush WS, McCauley JL, Beecham AH, De Jager PL, Consortium T, Ivinson A, Compston A, Hafler D, Hauser S, Sawcer S, Pericak-Vance M, Barcellos L, Mortlock D, Haines J. Interrogating the complex role of chromosome 16p13.13 in multiple sclerosis susceptibility: independent genetic signals in the CIITA–CLEC16A–SOCS1 gene complex. Human Molecular Genetics 2011, 20: 3517-3524. PMID: 21653641, PMCID: PMC3153306, DOI: 10.1093/hmg/ddr250.Peer-Reviewed Original ResearchMeSH KeywordsCCCTC-Binding FactorChromosomes, Human, Pair 16FemaleGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansLectins, C-TypeLinkage DisequilibriumLogistic ModelsMaleMonosaccharide Transport ProteinsMultiple SclerosisQuantitative Trait LociRepressor ProteinsSuppressor of Cytokine Signaling 1 ProteinSuppressor of Cytokine Signaling ProteinsConceptsIndependent genetic signalsGenetic signalsLymphoblastoid cell linesChromosome 16p13Cis expression QTLsOpen chromatin configurationCell linesLinkage disequilibrium patternsExpression array dataH3K27 methylationHistone modificationsGenomic regionsKb stretchStrong genetic componentSingle nucleotide polymorphismsChromatin configurationExpression correlationGene complexDisequilibrium patternsDisease locusGenesCorrelated expressionGenetic componentFunctional mechanismsLoci
2010
Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility
Zuvich RL, McCauley JL, Oksenberg JR, Sawcer SJ, De Jager PL, International Multiple Sclerosis Genetics Consortium, Aubin C, Cross AH, Piccio L, Aggarwal NT, Evans D, Hafler DA, Compston A, Hauser SL, Pericak-Vance MA, Haines JL. Genetic variation in the IL7RA/IL7 pathway increases multiple sclerosis susceptibility. Human Genetics 2010, 127: 525-535. PMID: 20112030, PMCID: PMC2854871, DOI: 10.1007/s00439-010-0789-4.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGene regionCase-control data setsPutative functional relationshipsNovel gene regionsIndependent case-control data setDense SNP mapReceptor alpha-chain geneIllumina Infinium BeadChipExperiment-wise significanceNovel associationsAlpha chain geneGenetic architectureComplex traitsStrong genetic componentGenetic variationSNP mapInfinium BeadChipAffordable genotypingBiological pathwaysGenesGenetic componentChain geneTYK2 geneNumerous family studies
2009
Male Infertility and Consanguinity in Lebanon: The Power of Ethnographic Epidemiology
Inhorn M, Kobeissi L, Abu-Musa A, Awwad J, Fakih M, Hammoud N, Hannoun A, Lakkis D, Nassar Z. Male Infertility and Consanguinity in Lebanon: The Power of Ethnographic Epidemiology. 2009, 165-195. DOI: 10.1093/acprof:oso/9780195374643.003.0007.Peer-Reviewed Original ResearchReproductive health problemsMale infertilityConsanguineous marriagesHealth problemsPublic health education programsCases of subfertilityMale infertility casesHealth education programsInfertility casesSignificant associationStrong genetic componentInfertilityFamily clusteringGenetic formsGenetic counselingConsanguinityGenetic componentSubfertilityEducation programsEpidemiology
2008
Consanguinity and family clustering of male factor infertility in Lebanon
Inhorn M, Kobeissi L, Nassar Z, Lakkis D, Fakih M. Consanguinity and family clustering of male factor infertility in Lebanon. Fertility And Sterility 2008, 91: 1104-1109. PMID: 18367181, DOI: 10.1016/j.fertnstert.2008.01.008.Peer-Reviewed Original ResearchConceptsMale factor infertilityFactor infertilityFamily clusteringSemen analysisConsanguineous marriagesReproductive historyMale factor infertility casesRisk Factor InterviewSecond-degree consanguinityCase-control studyInfertile male patientsFertile male controlsMale patientsInfertility casesSevere oligospermiaMAIN OUTCOMEMale controlsInfertilityIVF clinicsSignificant associationStrong genetic componentPatientsStudy sampleConsanguinityClinic
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