2020
Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia
Tang H, Jiang L, Stolzenberg-Solomon RZ, Arslan AA, Beane Freeman LE, Bracci PM, Brennan P, Canzian F, Du M, Gallinger S, Giles GG, Goodman PJ, Kooperberg C, Le Marchand L, Neale RE, Shu XO, Visvanathan K, White E, Zheng W, Albanes D, Andreotti G, Babic A, Bamlet WR, Berndt SI, Blackford A, Bueno-de-Mesquita B, Buring JE, Campa D, Chanock SJ, Childs E, Duell EJ, Fuchs C, Gaziano JM, Goggins M, Hartge P, Hassam MH, Holly EA, Hoover RN, Hung RJ, Kurtz RC, Lee IM, Malats N, Milne RL, Ng K, Oberg AL, Orlow I, Peters U, Porta M, Rabe KG, Rothman N, Scelo G, Sesso HD, Silverman DT, Thompson IM, Tjønneland A, Trichopoulou A, Wactawski-Wende J, Wentzensen N, Wilkens LR, Yu H, Zeleniuch-Jacquotte A, Amundadottir LT, Jacobs EJ, Petersen GM, Wolpin BM, Risch HA, Chatterjee N, Klein AP, Li D, Kraft P, Wei P. Genome-Wide Gene–Diabetes and Gene–Obesity Interaction Scan in 8,255 Cases and 11,900 Controls from PanScan and PanC4 Consortia. Cancer Epidemiology Biomarkers & Prevention 2020, 29: 1784-1791. PMID: 32546605, PMCID: PMC7483330, DOI: 10.1158/1055-9965.epi-20-0275.Peer-Reviewed Original ResearchConceptsSNP levelGenome-wide association study datasetGenome-wide levelGene-based analysisGWAS summary statisticsJoint effect testsGxE analysisGWAS top hitsPopulation substructureSignificant GxE interactionGene levelGene-environment interaction analysisAdditional genetic factorsTop hitsEnvironmental variablesGenetic variantsDiabetes/obesityGxE interactionsPancreatic cancerStudy sitesGenetic factorsMajor modifiable risk factorHit regionsModifiable risk factorsInteraction analysis
2013
Geographic population structure of the African malaria vector Anopheles gambiae suggests a role for the forest‐savannah biome transition as a barrier to gene flow
J P, A E, JL V, B G, F S, M M, JD C, F S, N E, D W, MJ D, A C, A D. Geographic population structure of the African malaria vector Anopheles gambiae suggests a role for the forest‐savannah biome transition as a barrier to gene flow. Evolutionary Applications 2013, 6: 910-924. PMID: 24062800, PMCID: PMC3779092, DOI: 10.1111/eva.12075.Peer-Reviewed Original ResearchGene flowPopulation structurePopulation substructureAfrican malaria vector Anopheles gambiaeMalaria vector Anopheles gambiaeGeographic population structureComplex population structureChromosomal arrangementsBiome transitionsGenetic clustersMicrosatellite lociAnopheles gambiae sensu strictoGambiae sensu strictoAnopheles gambiaeSensu strictoRainforest beltDistinct westAdditional populationsS formMolecular formsGambiaeBiomeLociSpeciesStricto
2010
Identification of population substructure among Jews using STR markers and dependence on reference populations included
Listman JB, Hasin D, Kranzler HR, Malison RT, Mutirangura A, Sughondhabirom A, Aharonovich E, Spivak B, Gelernter J. Identification of population substructure among Jews using STR markers and dependence on reference populations included. BMC Genomic Data 2010, 11: 48. PMID: 20546593, PMCID: PMC2896335, DOI: 10.1186/1471-2156-11-48.Peer-Reviewed Original ResearchConceptsAssociation studiesPopulation substructureGenetic historyPopulation genetic historyMajor continental populationsSTR markersFuture genetic studiesProportion of ancestryChromosomal dataContinental populationsMitochondrial DNAPopulation structureParental populationsMarker choiceRelated populationsGenetic signaturesGenetic studiesAutosomal STR markersGenetic componentSTR panelNon-Ashkenazi Jewish populationsAsian clusterPopulation informationFuture investigationsPopulation
2006
Bayesian modeling for genetic association in case-control studies: accounting for unknown population substructure
Zhang L, Mukherjee B, Ghosh M, Wu R. Bayesian modeling for genetic association in case-control studies: accounting for unknown population substructure. Statistical Modelling 2006, 6: 352-372. DOI: 10.1177/1471082006071841.Peer-Reviewed Original ResearchPopulation substructureCase-control studyGenetic association studiesLog odds ratio parametersOdds ratio parametersAssociation studiesAllele frequenciesGenetic associationParametric Bayesian methodsArgentinean populationBayesian modelCredible intervalsGenetic factorsBayesian methodsStatistical propertiesNumerical integration techniquesPosterior probabilityAssociation modelPopulationAllelesGenesAssociationIntegration techniqueMarkovObesity
2000
Family-based association studies
Zhao H. Family-based association studies. Statistical Methods In Medical Research 2000, 9: 563-587. PMID: 11308071, DOI: 10.1177/096228020000900604.Peer-Reviewed Original ResearchConceptsFamily-based association designComplex disease genesDisease genesBias due to population stratificationDetect gene-environment interactionsAssociation studiesLinkage studiesIncomplete parental genotypesPresence of population substructureAssociation designFamily-based association studyStudy quantitative traitsTraditional linkage studiesMendelian disease genesBiallelic genetic markerCase-control association studyGene-environment interactionsHuman Genome ProjectCase-control studyMultiallelic markersPopulation substructurePopulation stratificationPedigree structureGenome ProjectPositional cloningShort Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins
Tishkoff S, Pakstis A, Stoneking M, Kidd J, Destro-Bisol G, Sanjantila A, Lu R, Deinard A, Sirugo G, Jenkins T, Kidd K, Clark A. Short Tandem-Repeat Polymorphism/Alu Haplotype Variation at the PLAT Locus: Implications for Modern Human Origins. American Journal Of Human Genetics 2000, 67: 901-925. PMID: 10986042, PMCID: PMC1287905, DOI: 10.1086/303068.Peer-Reviewed Original ResearchMeSH KeywordsAfrica South of the SaharaAllelesAlu ElementsAnimalsChromosomes, Human, Pair 8Dinucleotide RepeatsEvolution, MolecularGene FrequencyGenetic VariationHaplotypesHominidaeHumansLinkage DisequilibriumMicronesiaPapua New GuineaPhylogenyPolymorphism, GeneticSequence DeletionTandem Repeat SequencesConceptsNon-African populationsHaplotype variationGene flowLinkage disequilibriumShort tandem repeat polymorphismsHaplotype diversityPLAT locusLarge effective population sizesAncient gene flowEffective population sizeDinucleotide short tandem repeat polymorphismsRecent common ancestryAlu insertion/deletion polymorphismHuman evolutionary historyDiverse human populationsModern human originsEvolutionary historyCommon ancestryAfrican populationsPopulation substructureAlu elementsPolymorphic Alu elementsPopulation sizeRare haplotypesDinucleotide repeats
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