2022
New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes
Mestiri S, Boussetta S, Pakstis AJ, Kamel S, Gaaied A, Kidd KK, Cherni L. New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes. Molecular Genetics & Genomic Medicine 2022, 10: e1871. PMID: 35128830, PMCID: PMC8922960, DOI: 10.1002/mgg3.1871.Peer-Reviewed Original ResearchConceptsNorth African populationsSingle nucleotide polymorphismsGenetic diversityGenetic variabilitySignificant gene flowHuman genetic diversityLowest average heterozygosityAfrican populationsGene flowEvolutionary forcesGenetic structureAverage heterozygosityAdmixed AmericansChromosome 3NRG1 geneChromosome 8Genetic relationshipsGenesDomain 1Nucleotide polymorphismsSushi multiple domains 1CSMD1 geneHaplotypic analysisWorldwide populationNew insights
2021
STAT3 polymorphisms in North Africa and its implication in breast cancer
Ziadi W, Boussetta S, Elkamel S, Pakstis AJ, Kidd KK, Medimegh I, Elgaaied A, Cherni L. STAT3 polymorphisms in North Africa and its implication in breast cancer. Molecular Genetics & Genomic Medicine 2021, 9: e1744. PMID: 34251094, PMCID: PMC8404238, DOI: 10.1002/mgg3.1744.Peer-Reviewed Original ResearchConceptsNorth African populationsAfrican populationsSTAT3 regionSingle nucleotide polymorphismsRare haplotypesHsa-mirMiR databaseMajor haplotypesGenesNucleotide polymorphismsHaplotypesSNPsSTAT3Allele frequenciesRs7211777Tunisian populationPolymorphismPopulationDiversityNorth AfricaAllelesSignificant frequencyRecombinationAssaysCancerGenetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region
Mestiri S, Boussetta S, Pakstis AJ, Elkamel S, Elgaaied ABA, Kidd KK, Cherni L. Genetic diversity of the North African population revealed by the typing of SNPs in the DRD2/ANKK1 genomic region. Gene 2021, 777: 145466. PMID: 33524518, DOI: 10.1016/j.gene.2021.145466.Peer-Reviewed Original ResearchMeSH KeywordsAdultAfrica, NorthernAllelesBlack PeopleEthnicityFemaleGene FrequencyGenetic Predisposition to DiseaseGenetic VariationGenomicsGenotypeGenotyping TechniquesHaplotypesHeterozygoteHuman MigrationHumansLinkage DisequilibriumMaleMiddle AgedPolymorphism, Single NucleotideProtein Serine-Threonine KinasesReceptors, Dopamine D2ConceptsNorth African populationsGenetic diversitySingle nucleotide polymorphismsGenetic structureAncestral gene poolPeculiar genetic structureLowest average heterozygosityNorth African onesAfrican populationsHigh linkage disequilibriumGenetic driftGenomic regionsAverage heterozygosityGene poolSame locusLinkage disequilibriumDisequilibrium analysisGenetic componentGenesNucleotide polymorphismsLociReceptor geneDiversityHuman populationEuropean populationsForensic Ancestry Inference: Data Requirements, Analysis Methods, and Interpretation of Results
Bulbul O, Kidd K. Forensic Ancestry Inference: Data Requirements, Analysis Methods, and Interpretation of Results. 2021, 225-240. DOI: 10.1201/9781003043027-12.Peer-Reviewed Original ResearchStandard DNA markersSingle nucleotide polymorphismsInformative single nucleotide polymorphismsAncestry informative single nucleotide polymorphismsDNA markersShort tandem repeatsTandem repeatsBiogeographic ancestryDNA profilesCrime scene DNANucleotide polymorphismsParallel sequencing technologiesAncestry informative SNPsShort tandem repeat polymorphismsDifferent populationsSequencing technologiesFuture forensic studiesMost populationsForensic geneticsAncestry assignmentTandem repeat polymorphismDNA samplesRepeatsAncestryDNA
2020
The distinctive geographic patterns of common pigmentation variants at the OCA2 gene
Kidd KK, Pakstis AJ, Donnelly MP, Bulbul O, Cherni L, Gurkan C, Kang L, Li H, Yun L, Paschou P, Meiklejohn KA, Haigh E, Speed WC. The distinctive geographic patterns of common pigmentation variants at the OCA2 gene. Scientific Reports 2020, 10: 15433. PMID: 32963319, PMCID: PMC7508881, DOI: 10.1038/s41598-020-72262-6.Peer-Reviewed Original ResearchConceptsOculocutaneous albinism type 2Genetic variationOCA2 genePopulation genetic variationGeographic patternsNormal pigmentation variationPigmentation variationSingle nucleotide polymorphismsPositive selectionHypomorphic proteinEnhancer variantsPigmentation variantsGenesNucleotide polymorphismsDistinctive geographic patternsEye colorStrong selection effectsVariant frequencyPigmentationVariantsProteinAllelesVariationDifferent patternsPolymorphismValidation of novel forensic DNA markers using multiplex microhaplotype sequencing
Gandotra N, Speed WC, Qin W, Tang Y, Pakstis AJ, Kidd KK, Scharfe C. Validation of novel forensic DNA markers using multiplex microhaplotype sequencing. Forensic Science International Genetics 2020, 47: 102275. PMID: 32305739, PMCID: PMC10131188, DOI: 10.1016/j.fsigen.2020.102275.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsMH lociMultiplex sequencingNovel single nucleotide polymorphismsSmall DNA amountsSingle MiSeq runMultiple single nucleotide polymorphismsHigher effective numberBiogeographic variationDNA markersGenomic sequencesNovel lociGenome ProjectDNA amountMiSeq runDifferent world populationsNucleotide polymorphismsLociSequencingMicrohaplotypesEffective numberDiverse range
2016
Proposed nomenclature for microhaplotypes
Kidd KK. Proposed nomenclature for microhaplotypes. Human Genomics 2016, 10: 16. PMID: 27316555, PMCID: PMC4912715, DOI: 10.1186/s40246-016-0078-y.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsHUGO Gene Nomenclature CommitteeGene Nomenclature CommitteeGroup of genesGene familyPopulation geneticsChromosome numberChromosome 1Related genesGenetic markersNucleotide polymorphismsNomenclature CommitteeGenesMicrohaplotypesRootsChromosomesFamilyLociUnique characterStandardized nomenclatureGeneticsNomenclatureSequencePolymorphism
2015
Genetic markers for massively parallel sequencing in forensics
Kidd K, Speed W, Wootton S, Lagace R, Langit R, Haigh E, Chang J, Pakstis A. Genetic markers for massively parallel sequencing in forensics. Forensic Science International Genetics Supplement Series 2015, 5: e677-e679. DOI: 10.1016/j.fsigss.2015.12.004.Peer-Reviewed Original ResearchShort tandem repeat polymorphismsSingle nucleotide polymorphismsParallel sequencingSingle single-nucleotide polymorphismSequence readsMore haplotypesSNP panelGenetic markersMultiple allelesAncestry inferenceNucleotide polymorphismsCodominant systemsTandem repeat polymorphismMicrohaplotypesLociSequencingIndividual identificationRepeat polymorphismPolymorphismField of forensicsDNAHaplotypesReadsPhenotypeAlleles
2014
Extensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases
Kim M, Chen X, Chin L, Paranjape T, Speed W, Kidd K, Zhao H, Weidhaas J, Slack FJ. Extensive sequence variation in the 3′ untranslated region of the KRAS gene in lung and ovarian cancer cases. Cell Cycle 2014, 13: 1030-1040. PMID: 24552817, PMCID: PMC3984301, DOI: 10.4161/cc.27941.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsCarcinoma, Non-Small-Cell LungCarcinoma, Ovarian EpithelialCase-Control StudiesFemaleHumansLung NeoplasmsMicroRNAsNeoplasms, Glandular and EpithelialOvarian NeoplasmsPolymorphism, Single NucleotideProto-Oncogene ProteinsProto-Oncogene Proteins p21(ras)Ras ProteinsConceptsMiRNA complementary sitesSequence variationComplementary sitesSingle nucleotide polymorphismsUntranslated regionRegulation of genesHigh-throughput sequencingExtensive sequence variationRegulation of KRASParticular single nucleotide polymorphismsOvarian cancer casesCapture enrichmentHuman diseasesSequence variantsImportant regulatorFunctional roleMiR-181Additional sequence variantsGenetic biomarkersCellular proliferationGenesNucleotide polymorphismsKRAS geneCancer casesUTR
2013
Worldwide Population Variation and Haplotype Analysis at the Serotonin Transporter Gene SLC6A4 and Implications for Association Studies
Murdoch JD, Speed WC, Pakstis AJ, Heffelfinger CE, Kidd KK. Worldwide Population Variation and Haplotype Analysis at the Serotonin Transporter Gene SLC6A4 and Implications for Association Studies. Biological Psychiatry 2013, 74: 879-889. PMID: 23510579, DOI: 10.1016/j.biopsych.2013.02.006.Peer-Reviewed Original ResearchConceptsVariable number tandem repeatSingle nucleotide polymorphismsFunctional single nucleotide polymorphismsPromoter variable number tandem repeatRestricted distributionAssociation studiesRare allelesPutative functional single nucleotide polymorphismsPossible functional variationPopulation-specific distributionWide geographic distributionAlleles of interestHealth-related phenotypesAdditional single nucleotide polymorphismsPopulation variationSerotonin transporter gene SLC6A4Transporter geneFunctional variationTandem repeatsNumber tandem repeatSNP rs25531Extent of variationGeographic distributionNucleotide polymorphismsHaplotype background
2012
High diversity and no significant selection signal of human ADH1B gene in Tibet
Lu Y, Kang L, Hu K, Wang C, Sun X, Chen F, Kidd JR, Kidd KK, Li H. High diversity and no significant selection signal of human ADH1B gene in Tibet. Investigative Genetics 2012, 3: 23. PMID: 23176670, PMCID: PMC3528464, DOI: 10.1186/2041-2223-3-23.Peer-Reviewed Original ResearchSingle nucleotide polymorphismsSelection signalsPositive selectionSignificant positive selectionMicro-evolutionary studiesPositive selection signalsLong-range haplotypesSino-Tibetan populationsDiversification historyADH1B geneGene diversityHaplotype diversityCommon ancestorHuman genesHigh diversityTibetan populationHaplogroupsGenesPolymorphic sitesNucleotide polymorphismsSmall populationDiversityAncestorSouthwest AsiaAlleles
2011
Single nucleotide polymorphisms and haplotypes in Native American populations
Kidd JR, Friedlaender F, Pakstis AJ, Furtado M, Fang R, Wang X, Nievergelt CM, Kidd KK. Single nucleotide polymorphisms and haplotypes in Native American populations. American Journal Of Biological Anthropology 2011, 146: 495-502. PMID: 21913176, PMCID: PMC3658315, DOI: 10.1002/ajpa.21560.Peer-Reviewed Original ResearchConceptsSingle nucleotide polymorphismsNative American populationsAutosomal markersModern Native American populationsNucleotide polymorphismsOld World populationsEvolutionary relationshipsAmerican populationDifferent small setsDNA polymorphismsEurasian originAncestry inferenceMultiple populationsPolymorphismLarge comprehensive datasetAscertainment biasesNew WorldSmall independent setsMarkersComprehensive datasetClose relationshipPopulationHaplotypesNew informationDiversification of the ADH1B Gene during Expansion of Modern Humans
Li H, Gu S, Han Y, Xu Z, Pakstis AJ, Jin L, Kidd JR, Kidd KK. Diversification of the ADH1B Gene during Expansion of Modern Humans. Annals Of Human Genetics 2011, 75: 497-507. PMID: 21592108, PMCID: PMC3722864, DOI: 10.1111/j.1469-1809.2011.00651.x.Peer-Reviewed Original ResearchConceptsShort tandem repeat polymorphismsSingle nucleotide polymorphismsGeographic patternsAncient DNA samplesADH1B geneSelective forcesRegulatory region variantsUnusual geographic distributionMigration eventsCommon haplogroupsDistinct geographic patternsGeographic distributionGenesNucleotide polymorphismsEast Asian populationsTandem repeat polymorphismDNA samplesHaplogroupsWorldwide setAllelesModern humansRegion variantsRepeat polymorphismPolymorphismEast AsiaAnalyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples
Kidd JR, Friedlaender FR, Speed WC, Pakstis AJ, De La Vega FM, Kidd KK. Analyses of a set of 128 ancestry informative single-nucleotide polymorphisms in a global set of 119 population samples. Investigative Genetics 2011, 2: 1. PMID: 21208434, PMCID: PMC3025953, DOI: 10.1186/2041-2223-2-1.Peer-Reviewed Original ResearchAncestry informative single nucleotide polymorphismsInformative single nucleotide polymorphismsSingle nucleotide polymorphismsTrait association studiesAncestry informative markersForensic ancestry inferencePopulation structureEurasian populationsAdmixture mappingAssociation studiesAncestry inferenceAncestry assignmentInformative markersAdmixture studiesIndividual ancestryHuman populationNumber of individualsAncestryAllele frequenciesMarker panelOriginal selectionPopulation sampleSpecific setStructure programPolymorphism
2008
The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase
Mukherjee N, Kidd K, Pakstis A, Speed W, Li H, Tarnok Z, Barta C, Kajuna S, Kidd J. The complex global pattern of genetic variation and linkage disequilibrium at catechol-O-methyltransferase. Molecular Psychiatry 2008, 15: 216-225. PMID: 18574484, PMCID: PMC2811226, DOI: 10.1038/mp.2008.64.Peer-Reviewed Original ResearchConceptsNon-synonymous single nucleotide polymorphismsSingle nucleotide polymorphismsGenetic variationDiverse evolutionary lineagesFuture association studiesEvolutionary lineagesPromoter regionAssociation studiesGenesLinkage disequilibriumFunctional consequencesUndetected variantsNucleotide polymorphismsCommon haplotypeComplex global patternsGlobal patternsDNA samplesHaplotypesLineagesExonsHaplotypic combinationsKbDNACOMT geneOnly variation
2007
Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL
Niemann S, Landers J, Churchill M, Hosler B, Sapp P, Speed W, Lahn B, Kidd K, Brown R, Hayashi Y. Motoneuron-specific NR3B gene: No association with ALS and evidence for a common null alleleSYMBOL. Neurology 2007, 70: 666-676. PMID: 17687115, DOI: 10.1212/01.wnl.0000271078.51280.17.Peer-Reviewed Original ResearchMeSH KeywordsAllelesCase-Control StudiesDNA Mutational AnalysisGene FrequencyGenetic Predisposition to DiseaseGenetics, PopulationGenotypeHaplotypesHumansLinkage DisequilibriumMotor Neuron DiseaseMotor NeuronsPolymorphism, Single NucleotideReceptors, N-Methyl-D-AspartateSuperoxide DismutaseSuperoxide Dismutase-1ConceptsSporadic amyotrophic lateral sclerosisAmyotrophic lateral sclerosisSingle nucleotide polymorphismsGRIN3B geneGlutamate-mediated excitotoxicityCase-control studyFamilial amyotrophic lateral sclerosisIonotropic glutamate receptorsNervous system-related genesTag single nucleotide polymorphismsPolymorphic CAG repeatNMDA typeGlutamate receptorsLateral sclerosisReceptor responsesAllele frequenciesCommon polymorphismsUnreported single nucleotide polymorphismsNR3BCAG repeatsGenetic dysfunctionGRIN3BNucleotide polymorphismsNull allelesIndividuals
2004
Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region
Paschou P, Feng Y, Pakstis A, Speed W, DeMille M, Kidd J, Jaghori B, Kurlan R, Pauls D, Sandor P, Barr C, Kidd K. Indications of Linkage and Association of Gilles de la Tourette Syndrome in Two Independent Family Samples: 17q25 Is a Putative Susceptibility Region. American Journal Of Human Genetics 2004, 75: 545-560. PMID: 15303240, PMCID: PMC1182043, DOI: 10.1086/424389.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 17C-Reactive ProteinGene FrequencyGenetic LinkageGenetic Predisposition to DiseaseGenotypeHaplotypesHumansLinkage DisequilibriumLod ScoreMicrosatellite RepeatsMicrotubule-Associated ProteinsNerve Tissue ProteinsPedigreePolymorphism, Single NucleotideTourette SyndromeWhite PeopleConceptsSingle nucleotide polymorphismsLinkage disequilibriumSusceptibility regionsThree-site haplotypesPutative susceptibility regionsBackground linkage disequilibriumSignificant association resultsIndication of linkageNonparametric LOD scoreGenomic regionsThree-marker haplotypeComplex genetic backgroundAdditional microsatellite markersFine mappingGenetic basisHigher LD valuesMicrosatellite markersExpression profilesAssociation resultsTransmission/disequilibrium testChromosome 17Genetic componentGenetic backgroundGenesLOD score
2000
Worldwide Genetic Analysis of the CFTR Region
Mateu E, Calafell F, Lao O, Bonné-Tamir B, Kidd J, Pakstis A, Kidd K, Bertranpetit J. Worldwide Genetic Analysis of the CFTR Region. American Journal Of Human Genetics 2000, 68: 103-117. PMID: 11104661, PMCID: PMC1234903, DOI: 10.1086/316940.Peer-Reviewed Original ResearchConceptsCystic fibrosis transmembrane conductance regulator (CFTR) geneShort tandem repeat polymorphismsSingle nucleotide polymorphismsLinkage disequilibriumHaplotype backgroundTransmembrane conductance regulator geneWorldwide population samplesModern human populationsHaplotype variationHigh heterozygosityCFTR regionOut of AfricaRegulator geneSevere genetic disorderGenetic analysisMutation rateDifferent haplotypesAncestral haplotypeAllele sizeOutcome of differencesSNP haplotypesLD analysisNon-AfricansHaplotypesLD measures
1999
Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles
Palmatier M, Kang A, Kidd K. Global variation in the frequencies of functionally different catechol-O-methyltransferase alleles. Biological Psychiatry 1999, 46: 557-567. PMID: 10459407, DOI: 10.1016/s0006-3223(99)00098-0.Peer-Reviewed Original ResearchConceptsRestriction site polymorphismsSingle nucleotide polymorphismsAllele frequenciesDifferent population frequenciesControl allele frequenciesEnzyme activity levelsAncestral alleleCandidate genesPopulation-based association studyAssociation studiesSite polymorphismFirst global surveyNucleotide polymorphismsAllelesEnzyme activityPopulation frequencyPolymorphismDifferent populationsCOMT enzyme activityActivity alleleLow-activity alleleGenesProteinGlobal variationPopulation