2018
Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits
Polimanti R, Kayser MH, Gelernter J. Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. Genome Medicine 2018, 10: 24. PMID: 29580271, PMCID: PMC5870256, DOI: 10.1186/s13073-018-0532-7.Peer-Reviewed Original ResearchConceptsLocal adaptationPathogen diversityEuropean populationsBehavioral traitsGenome-wide investigationGenome-wide dataPolygenic risk score analysisProtozoan diversityWinter minimum temperaturesGenetic diversityEvolutionary mechanismsPositive selectionWidespread signalMolecular mechanismsTop findingsRisk score analysisDiversityTraitsCommon variationBehavioral phenotypesAdaptationGeneticsPopulationPhenotypeMechanism
2015
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer
Childs EJ, Mocci E, Campa D, Bracci PM, Gallinger S, Goggins M, Li D, Neale RE, Olson SH, Scelo G, Amundadottir LT, Bamlet WR, Bijlsma MF, Blackford A, Borges M, Brennan P, Brenner H, Bueno-de-Mesquita HB, Canzian F, Capurso G, Cavestro GM, Chaffee KG, Chanock SJ, Cleary SP, Cotterchio M, Foretova L, Fuchs C, Funel N, Gazouli M, Hassan M, Herman JM, Holcatova I, Holly EA, Hoover RN, Hung RJ, Janout V, Key TJ, Kupcinskas J, Kurtz RC, Landi S, Lu L, Malecka-Panas E, Mambrini A, Mohelnikova-Duchonova B, Neoptolemos JP, Oberg AL, Orlow I, Pasquali C, Pezzilli R, Rizzato C, Saldia A, Scarpa A, Stolzenberg-Solomon RZ, Strobel O, Tavano F, Vashist YK, Vodicka P, Wolpin BM, Yu H, Petersen GM, Risch HA, Klein AP. Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nature Genetics 2015, 47: 911-916. PMID: 26098869, PMCID: PMC4520746, DOI: 10.1038/ng.3341.Peer-Reviewed Original ResearchMeSH KeywordsAgedAustraliaChromosomes, Human, Pair 17Chromosomes, Human, Pair 2Chromosomes, Human, Pair 3Chromosomes, Human, Pair 7EuropeFemaleGene FrequencyGenetic LociGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansMaleMiddle AgedNorth AmericaPancreatic NeoplasmsPolymorphism, Single NucleotideRisk FactorsCommon variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease
Rannikmäe K, Davies G, Thomson PA, Bevan S, Devan WJ, Falcone GJ, Traylor M, Anderson CD, Battey TW, Radmanesh F, Deka R, Woo JG, Martin LJ, Jimenez-Conde J, Selim M, Brown DL, Silliman SL, Kidwell CS, Montaner J, Langefeld CD, Slowik A, Hansen BM, Lindgren AG, Meschia JF, Fornage M, Bis JC, Debette S, Ikram MA, Longstreth WT, Schmidt R, Zhang CR, Yang Q, Sharma P, Kittner SJ, Mitchell BD, Holliday EG, Levi CR, Attia J, Rothwell PM, Poole DL, Boncoraglio GB, Psaty BM, Malik R, Rost N, Worrall BB, Dichgans M, Van Agtmael T, Woo D, Markus HS, Seshadri S, Rosand J, Sudlow CL. Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. Neurology 2015, 84: 918-926. PMID: 25653287, PMCID: PMC4351667, DOI: 10.1212/wnl.0000000000001309.Peer-Reviewed Original ResearchConceptsDeep intracerebral hemorrhageSmall vessel diseaseCerebral small vessel diseaseIntracerebral hemorrhageWhite matter hyperintensitiesVessel diseaseIschemic strokeSingle nucleotide polymorphismsMatter hyperintensitiesSymptomatic small vessel diseaseSporadic cerebral small vessel diseaseWhite matter hyperintensity volumeLacunar ischemic strokeIschemic stroke patientsPopulation-based studySymptomatic ischemic stroke patientsCOL4A1/COL4A2Common single nucleotide polymorphismsDirection of associationCommon variationStroke patientsHyperintensity volumeSporadic formsHemorrhageCerebrovascular phenotypes
2014
Insecure attachment during infancy predicts greater amygdala volumes in early adulthood
Moutsiana C, Johnstone T, Murray L, Fearon P, Cooper P, Pliatsikas C, Goodyer I, Halligan S. Insecure attachment during infancy predicts greater amygdala volumes in early adulthood. Journal Of Child Psychology And Psychiatry 2014, 56: 540-548. PMID: 25156392, PMCID: PMC4407912, DOI: 10.1111/jcpp.12317.Peer-Reviewed Original ResearchConceptsAmygdala volumeGreater amygdala volumesMaternal postnatal depressionLarger amygdala volumesInfant attachment statusProspective longitudinal studyLongitudinal studyMonths of ageMaternal depression historyAmygdala morphologyMRI assessmentHippocampal volumePostnatal depressionAdult brainDepression historyNeural changesEarly environmentEarly caregiving environmentAttachment statusVolumetric differencesYoung adultsEarly adulthoodNeural areasCaregiving environmentCommon variation
2013
Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture
Davis LK, Yu D, Keenan CL, Gamazon ER, Konkashbaev AI, Derks EM, Neale BM, Yang J, Lee SH, Evans P, Barr CL, Bellodi L, Benarroch F, Berrio GB, Bienvenu OJ, Bloch MH, Blom RM, Bruun RD, Budman CL, Camarena B, Campbell D, Cappi C, Silgado J, Cath DC, Cavallini MC, Chavira DA, Chouinard S, Conti DV, Cook EH, Coric V, Cullen BA, Deforce D, Delorme R, Dion Y, Edlund CK, Egberts K, Falkai P, Fernandez TV, Gallagher PJ, Garrido H, Geller D, Girard SL, Grabe HJ, Grados MA, Greenberg BD, Gross-Tsur V, Haddad S, Heiman GA, Hemmings SM, Hounie AG, Illmann C, Jankovic J, Jenike MA, Kennedy JL, King RA, Kremeyer B, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Liu C, Lochner C, Lowe TL, Macciardi F, McCracken JT, McGrath LM, Restrepo S, Moessner R, Morgan J, Muller H, Murphy DL, Naarden AL, Ochoa WC, Ophoff RA, Osiecki L, Pakstis AJ, Pato MT, Pato CN, Piacentini J, Pittenger C, Pollak Y, Rauch SL, Renner TJ, Reus VI, Richter MA, Riddle MA, Robertson MM, Romero R, Rosàrio MC, Rosenberg D, Rouleau GA, Ruhrmann S, Ruiz-Linares A, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stein DJ, Strengman E, Tischfield JA, Duarte A, Vallada H, Van Nieuwerburgh F, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR, Westenberg HG, Shugart YY, Miguel EC, McMahon W, Wagner M, Nicolini H, Posthuma D, Hanna GL, Heutink P, Denys D, Arnold PD, Oostra BA, Nestadt G, Freimer NB, Pauls DL, Wray NR, Stewart SE, Mathews CA, Knowles JA, Cox NJ, Scharf JM. Partitioning the Heritability of Tourette Syndrome and Obsessive Compulsive Disorder Reveals Differences in Genetic Architecture. PLOS Genetics 2013, 9: e1003864. PMID: 24204291, PMCID: PMC3812053, DOI: 10.1371/journal.pgen.1003864.Peer-Reviewed Original ResearchConceptsGenome-wide complex trait analysisExpression quantitative trait lociGenetic architectureGenetic correlationsGenome-wide common variant dataQuantitative trait lociComplex trait analysisDistinct genetic architecturesGenomic architectureGenomic elementsFunctional annotationMinor allele frequencyTrait lociPrevious heritability estimatesMAF binsGWAS studiesGene expressionTrait analysisHeritabilityGenetic overlapVariant dataHeritability estimatesAllele frequenciesCommon variationSNPs
2012
Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects
Pangilinan F, Molloy AM, Mills JL, Troendle JF, Parle-McDermott A, Signore C, O’Leary V, Chines P, Seay JM, Geiler-Samerotte K, Mitchell A, VanderMeer JE, Krebs KM, Sanchez A, Cornman-Homonoff J, Stone N, Conley M, Kirke PN, Shane B, Scott JM, Brody LC. Evaluation of common genetic variants in 82 candidate genes as risk factors for neural tube defects. BMC Medical Genomics 2012, 13: 62. PMID: 22856873, PMCID: PMC3458983, DOI: 10.1186/1471-2350-13-62.Peer-Reviewed Original ResearchConceptsStrongest association signalAssociation signalsCandidate genesNTD mouse modelsSingle strong signalHigh-priority candidatesCommon genetic variantsMaternal periconceptional folic acid supplementationNTD riskGenetic association studiesCommon birth defectsPathway genesList of variantsB12 pathwayFolate metabolic pathwayAssociation studiesMaternal effectsMetabolic pathwaysGenesPriority candidatesGenetic variantsCommon variationTube defectsCandidate polymorphismsSNPsIntegrating Imaging and Genetic Research
Perlis R, Blumberg H. Integrating Imaging and Genetic Research. 2012, 239-252. DOI: 10.1093/med/9780199797608.003.0101.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsBipolar disorderCorticolimbic systemAbstract Neuroimaging studiesHomogeneous patient populationAnterior cingulate cortexPatient populationBrain changesClinical practiceCingulate cortexPersonalized treatmentVentral prefrontalNeuroimaging studiesGenetic association studiesConvergence of findingsMolecular mechanismsAssociation studiesGenetic studiesCommon variationDisordersGenetic researchFuture investigationsImaging
2010
Variants in several genomic regions associated with asperger disorder
Salyakina D, Ma D, Jaworski J, Konidari I, Whitehead P, Henson R, Martinez D, Robinson J, Sacharow S, Wright H, Abramson R, Gilbert J, Cuccaro M, Pericak‐Vance M. Variants in several genomic regions associated with asperger disorder. Autism Research 2010, 3: 303-310. PMID: 21182207, PMCID: PMC4435556, DOI: 10.1002/aur.158.Peer-Reviewed Original ResearchConceptsASP familiesWide association studyGenetic risk factorsGenomic regionsChromosomal regionsAssociation studiesAssociation resultsLinkage regionNovel regionLinkage areasGenetic heterogeneityCommon variationFamilyAssociation regionsDiscovery dataAutism spectrum disorderAsperger's disorderPhenotypeHomogenous subsetsRegionVariants
2009
Sex-dependent association of common variants of microcephaly genes with brain structure
Rimol L, Agartz I, Djurovic S, Brown A, Roddey J, Kähler A, Mattingsdal M, Athanasiu L, Joyner A, Schork N, Halgren E, Sundet K, Melle I, Dale A, Andreassen O, Weiner M, Thal L, Petersen R, Jack C, Jagust W, Trojanowki J, Toga A, Beckett L, Green R, Gamst A, Potter W, Montine T, Anders D, Bernstein M, Felmlee J, Fox N, Thompson P, Schuff N, Alexander G, Bandy D, Koeppe R, Foster N, Reiman E, Chen K, Trojanowki J, Shaw L, Lee V, Korecka M, Toga A, Crawford K, Neu S, Harvey D, Gamst A, Kornak J, Kachaturian Z, Frank R, Snyder P, Molchan S, Kaye J, Vorobik R, Quinn J, Schneider L, Pawluczyk S, Spann B, Fleisher A, Vanderswag H, Heidebrink J, Lord J, Johnson K, Doody R, Villanueva-Meyer J, Chowdhury M, Stern Y, Honig L, Bell K, Morris J, Mintun M, Schneider S, Marson D, Griffith R, Badger B, Grossman H, Tang C, Stern J, deToledo-Morrell L, Shah R, Bach J, Duara R, Isaacson R, Strauman S, Albert M, Pedroso J, Toroney J, Rusinek H, de Leon M, De Santi S, Doraiswamy P, Petrella J, Aiello M, Clark C, Pham C, Nunez J, Smith C, Given C, Hardy P, DeKosky S, Oakley M, Simpson D, Ismail M, Porsteinsson A, McCallum C, Cramer S, Mulnard R, McAdams-Ortiz C, Diaz-Arrastia R, Martin-Cook K, DeVous M, Levey A, Lah J, Cellar J, Burns J, Anderson H, Laubinger M, Bartzokis G, Silverman D, Lu P, Fletcher R, Parfitt F, Johnson H, Farlow M, Herring S, Hake A, van Dyck C, MacAvoy M, Bifano L, Chertkow H, Bergman H, Hosein C, Black S, Graham S, Caldwell C, Feldman H, Assaly M, Hsiung G, Kertesz A, Rogers J, Trost D, Bernick C, Gitelman D, Johnson N, Mesulam M, Sadowsky C, Villena T, Mesner S, Aisen P, Johnson K, Behan K, Sperling R, Rentz D, Johnson K, Rosen A, Tinklenberg J, Ashford W, Sabbagh M, Connor D, Obradov S, Killiany R, Norbash A, Obisesan T, Jayam-Trouth A, Wang P, Auchus A, Huang J, Friedland R, DeCarli C, Fletcher E, Carmichael O, Kittur S, Mirje S, Johnson S, Borrie M, Lee T, Asthana S, Carlsson C, Potkin S, Highum D, Preda A, Nguyen D, Tariot P, Hendin B, Scharre D, Kataki M, Beversdorf D, Zimmerman E, Celmins D, Brown A, Gandy S, Marenberg M, Rovner B, Pearlson G, Blank K, Anderson K, Saykin A, Santulli R, Pare N, Williamson J, Sink K, Potter H, Raj B, Giordano A, Ott B, Wu C, Cohen R, Wilks K. Sex-dependent association of common variants of microcephaly genes with brain structure. Proceedings Of The National Academy Of Sciences Of The United States Of America 2009, 107: 384-388. PMID: 20080800, PMCID: PMC2806758, DOI: 10.1073/pnas.0908454107.Peer-Reviewed Original ResearchA Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1
Ma D, Salyakina D, Jaworski J, Konidari I, Whitehead P, Andersen A, Hoffman J, Slifer S, Hedges D, Cukier H, Griswold A, McCauley J, Beecham G, Wright H, Abramson R, Martin E, Hussman J, Gilbert J, Cuccaro M, Haines J, Pericak‐Vance M. A Genome‐wide Association Study of Autism Reveals a Common Novel Risk Locus at 5p14.1. Annals Of Human Genetics 2009, 73: 263-273. PMID: 19456320, PMCID: PMC2918410, DOI: 10.1111/j.1469-1809.2009.00523.x.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsGenetic architectureAssociation studiesGenome-wide association studiesComplex genetic architectureIllumina Human 1M beadchipUnderlying genetic architectureK Illumina BeadChipWide association studyNovel risk lociHeritable neuropsychiatric disorderChromosome 5p14.1Common variationRisk lociIllumina BeadChipNovel regionNucleotide polymorphismsAutism familiesBeadChipRare variationDiscovery datasetCaucasian familiesIndependent datasetsFamilyLoci
2004
Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study
Tamimi RM, Hankinson SE, Spiegelman D, Kraft P, Colditz GA, Hunter DJ. Common ataxia telangiectasia mutated haplotypes and risk of breast cancer: a nested case–control study. Breast Cancer Research 2004, 6: r416. PMID: 15217510, PMCID: PMC468661, DOI: 10.1186/bcr809.Peer-Reviewed Original ResearchMeSH KeywordsAdultAtaxia TelangiectasiaAtaxia Telangiectasia Mutated ProteinsBreast NeoplasmsCase-Control StudiesCell Cycle ProteinsCohort StudiesDNA-Binding ProteinsFemaleHaplotypesHumansMiddle AgedMutationNursesPolymorphism, Single NucleotideProtein Serine-Threonine KinasesRisk FactorsSurveys and QuestionnairesTumor Suppressor ProteinsConceptsSingle nucleotide polymorphismsATM geneDNA double-strand breaksNucleotide polymorphismsDouble-strand breaksEntire genomic sequenceTumor suppressor geneCommon variationCell cycle arrestHaplotype diversityUnique haplotypesGenomic sequencesAtaxia telangiectasiaSingle nucleotide polymorphism detectionSporadic breast cancer riskSuppressor geneCycle arrestGenesATM haplotypesPolymorphism detectionCommon haplotypeHaplotypesGenotype informationHaplotype analysisMutations
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