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
Genome-wide association study of Tourette's syndrome
Scharf JM, Yu D, Mathews CA, Neale BM, Stewart SE, Fagerness JA, Evans P, Gamazon E, Edlund CK, Service SK, Tikhomirov A, Osiecki L, Illmann C, Pluzhnikov A, Konkashbaev A, Davis LK, Han B, Crane J, Moorjani P, Crenshaw AT, Parkin MA, Reus VI, Lowe TL, Rangel-Lugo M, Chouinard S, Dion Y, Girard S, Cath DC, Smit JH, King RA, Fernandez TV, Leckman JF, Kidd KK, Kidd JR, Pakstis AJ, State MW, Herrera LD, Romero R, Fournier E, Sandor P, Barr CL, Phan N, Gross-Tsur V, Benarroch F, Pollak Y, Budman CL, Bruun RD, Erenberg G, Naarden AL, Lee PC, Weiss N, Kremeyer B, Berrío GB, Campbell DD, Cardona Silgado JC, Ochoa WC, Mesa Restrepo SC, Muller H, Valencia Duarte AV, Lyon GJ, Leppert M, Morgan J, Weiss R, Grados MA, Anderson K, Davarya S, Singer H, Walkup J, Jankovic J, Tischfield JA, Heiman GA, Gilbert DL, Hoekstra PJ, Robertson MM, Kurlan R, Liu C, Gibbs JR, Singleton A, Hardy J, Strengman E, Ophoff R, Wagner M, Moessner R, Mirel D, Posthuma D, Sabatti C, Eskin E, Conti D, Knowles J, Ruiz-Linares A, Rouleau G, Purcell S, Heutink P, Oostra B, McMahon W, Freimer N, Cox N, Pauls D. Genome-wide association study of Tourette's syndrome. Molecular Psychiatry 2012, 18: 721-728. PMID: 22889924, PMCID: PMC3605224, DOI: 10.1038/mp.2012.69.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAdultAttention Deficit Disorder with HyperactivityCase-Control StudiesChromosomes, Human, Pair 9FemaleFibrillar CollagensGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansInternational CooperationMaleMeta-Analysis as TopicObsessive-Compulsive DisorderPolymorphism, Single NucleotideTourette SyndromeWhite PeopleYoung AdultConceptsGenome-wide association studiesFirst genome-wide association studyAssociation studiesTop signalsFull genetic architectureAncestry-matched controlsEuropean ancestry samplesGenetic architectureGWAS dataComplex inheritanceEuropean-derived populationsSusceptibility variantsSusceptibility genesEventual identificationEuropean ancestryCosta RicaChromosome 9q32Familial recurrence rateNorth AmericaComplete understandingAmerican populationCentral ValleyNeuropsychiatric diseasesDevelopmental disordersGenes
2011
Analyses 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
Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene
Lee M, Mukherjee N, Pakstis A, Khaliq S, Mohyuddin A, Mehdi S, Speed W, Kidd J, Kidd K. Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene. The Pharmacogenomics Journal 2008, 8: 349-356. PMID: 18663376, PMCID: PMC2782390, DOI: 10.1038/tpj.2008.9.Peer-Reviewed Original ResearchConceptsGenetic variationGene expressionAssociation studiesFamily of enzymesDifferent human populationsHaplotype variationHuman population samplesMajor geographical regionsTandem repeatsPolymorphism haplotypesGenesMultiple populationsHaplotypesSusceptibility mutationsGlobal patternsHuman populationAdditional polymorphismsHaplotype frequenciesCentral roleDifferent populationsDiverse patternsEndogenous compoundsDisequilibriumLD dataPolymorphismThe 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
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 variationPopulationGlobal variation of a 40-bp VNTR in the 3′-untranslated region of the dopamine transporter gene (SLC6A3)
Kang A, Palmatier M, Kidd K. Global variation of a 40-bp VNTR in the 3′-untranslated region of the dopamine transporter gene (SLC6A3). Biological Psychiatry 1999, 46: 151-160. PMID: 10418689, DOI: 10.1016/s0006-3223(99)00101-8.Peer-Reviewed Original Research
1997
Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method
Sirugo G, Deinard A, Kidd J, Kidd K. Survey of Maximum CTG/CAG Repeat Lengths in Humans and Non-Human Primates: Total Genome Scan in Populations Using the Repeat Expansion Detection Method. Human Molecular Genetics 1997, 6: 403-408. PMID: 9147643, DOI: 10.1093/hmg/6.3.403.Peer-Reviewed Original ResearchConceptsCTG/CAGPygmy chimpanzeesCommon chimpanzeesRepeat lengthRandom genetic driftOrang-utansHuman populationDisease association studiesGenetic driftHuman genomeOverall mutation rateGenome scanAssociation studiesMutation rateBiaka PygmiesExpansion mutationRepeat expansionTotal genome scanPopulation differencesPopulation stratificationNon-human primatesRepeat expansion detection (RED) methodExpansion detectionChimpanzeesMutations
1996
DRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research
Kidd K, Pakstis A, Castiglione C, Kidd J, Speed W, Goldman D, Knowler W, Lu R, Bonne‐Tamir B. DRD2 Haplotypes Containing the TaqI A1 Allele: Implications for Alcoholism Research. Alcohol Clinical And Experimental Research 1996, 20: 697-705. PMID: 8800387, DOI: 10.1111/j.1530-0277.1996.tb01674.x.Peer-Reviewed Original ResearchMeSH KeywordsAlcoholismAllelesAnimalsChromosome MappingDeoxyribonucleases, Type II Site-SpecificEthnicityGene FrequencyGenetics, PopulationHaplotypesHumansPolymerase Chain ReactionPolymorphism, GeneticPolymorphism, Restriction Fragment LengthReceptors, Dopamine D2Repetitive Sequences, Nucleic AcidResearchConceptsGenetic variationAssociation studiesUnrelated control samplesDopamine D2 receptor locusDiversity of haplotypesShort tandem repeat polymorphismsDRD2 locusEvolutionary historyRestriction fragment length polymorphismPopulation geneticsPhylogenetic originFragment length polymorphismAncestral originReceptor locusHomologous regionsIntron 2LociAllelic systemHigher primatesHaplotypesTandem repeat polymorphismAllelesConsiderable diversityDRD2 haplotypesPolymorphismThe world-wide distribution of allele frequencies at the human dopamine D4 receptor locus
Chang F, Kidd J, Livak K, Pakstis A, Kidd K. The world-wide distribution of allele frequencies at the human dopamine D4 receptor locus. Human Genetics 1996, 98: 91-101. PMID: 8682515, DOI: 10.1007/s004390050166.Peer-Reviewed Original ResearchConceptsImperfect tandem repeatsAllele frequenciesDifferent populationsActual allele frequenciesDopamine D4 receptor locusSelective forcesEvolutionary significanceWorld-wide distributionAssociation studiesReceptor locusTandem repeatsThird exonBase pairsAmino acidsFunctional relevanceRepeatsReceptor geneAllelesLociModern humansPolymorphismD4 receptor geneDopamine D4 receptor geneRepeat polymorphismExons
1995
An international two–stage genome–wide search for schizophrenia susceptibility genes
Moises H, Yang L, Kristbjarnarson H, Wiese C, Byerley W, Macciardi F, Arolt V, Blackwood D, Liu X, Sjögren B, Aschauer H, Hwu H, Jang K, Livesley W, Kennedy J, Zoega T, Ivarsson O, Bui M, Yu M, Havsteen B, Commenges D, Weissenbach J, Schwinger E, Gottesman I, Pakstis A, Wetterberg L, Kidd K, Helgason T. An international two–stage genome–wide search for schizophrenia susceptibility genes. Nature Genetics 1995, 11: 321-324. PMID: 7581457, DOI: 10.1038/ng1195-321.Peer-Reviewed Original ResearchConceptsGenome-wide searchChromosome 6pIDDM susceptibility genesModel-free linkage analysisSchizophrenia susceptibility genesFine mappingOligogenic transmissionAssociation studiesLinkage analysisGeographical isolatesLinkage findingsSusceptibility genesGenesLocus heterogeneityLarge pedigreeComplex disorderSecond International Collaborative StudyComplex modesHLA regionMultifactorial disease