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 patternsPolymorphism
2011
Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk
Pelletier C, Speed WC, Paranjape T, Keane K, Blitzblau R, Hollestelle A, Safavi K, van den Ouweland A, Zelterman D, Slack FJ, Kidd KK, Weidhaas JB. Rare BRCA1 haplotypes including 3’UTR SNPs associated with breast cancer risk. Cell Cycle 2011, 10: 90-99. PMID: 21191178, PMCID: PMC3048078, DOI: 10.4161/cc.10.1.14359.Peer-Reviewed Original ResearchConceptsGenetic markersRare haplotypesNew genetic markersBRCA1 3'UTRSequence mutationsMicroRNA bindingFunctional variantsSuch polymorphismsHaplotypesMutationsBRCA1Haplotype analysisPolymorphismSNPsRegion polymorphismsVariantsFunctional polymorphismsBreast cancer subtypesCancer subtypesMarkersBRCA1 haplotypeMiRNALarge populationBRCA1 mutationsBinding
2010
A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma
Godshalk SE, Paranjape T, Nallur S, Speed W, Chan E, Molinaro AM, Bacchiocchi A, Hoyt K, Tworkoski K, Stern DF, Sznol M, Ariyan S, Lazova R, Halaban R, Kidd KK, Weidhaas JB, Slack FJ. A Variant in a MicroRNA complementary site in the 3′ UTR of the KIT oncogene increases risk of acral melanoma. Oncogene 2010, 30: 1542-1550. PMID: 21119596, PMCID: PMC3069149, DOI: 10.1038/onc.2010.536.Peer-Reviewed Original ResearchConceptsMessenger RNAsComplementary sitesNovel genetic markersKIT oncogeneTarget genesRegulatory relationshipsUntranslated regionGenetic markersHeritable riskFunctional variantsGenetic variantsOncogeneMultifaceted roleProtein levelsProtein expressionVariant resultsComplementary sequencesReporter dataUTRMelanoma pathogenesisMiR-221KIT variantsSeed regionExpressionVariants
1999
Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism
Osier M, Pakstis A, Kidd J, Lee J, Yin S, Ko H, Edenberg H, Lu R, Kidd K. Linkage Disequilibrium at the ADH2 and ADH3 Loci and Risk of Alcoholism. American Journal Of Human Genetics 1999, 64: 1147-1157. PMID: 10090900, PMCID: PMC1377839, DOI: 10.1086/302317.Peer-Reviewed Original ResearchMeSH KeywordsAlcohol DehydrogenaseAlcoholismAllelesBase SequenceChinaChromosomes, Human, Pair 4Cloning, MolecularGene FrequencyGenetic Predisposition to DiseaseGenetic VariationHaplotypesHumansIndians, Central AmericanLinkage DisequilibriumMexicoMolecular Sequence DataMultigene FamilyNative Hawaiian or Other Pacific IslanderPolymorphism, Single NucleotideRacial GroupsTaiwanConceptsProportion of chromosomesAlcohol dehydrogenase geneDehydrogenase geneChromosome 4Functional variantsChromosomesLinkage disequilibriumADH2Functional polymorphismsADH3Allele frequenciesPairwise disequilibriumGenesIntronic polymorphismDisequilibriumPolymorphismDifferent efficienciesRisk of alcoholismHigher VmaxClass I alcohol dehydrogenase (ADH) genesVariantsLociKbHaplotypesPopulation
1995
Apparent monomorphism of ALDH2 in seven American Indian populations
Novoradovsky A, Kidd J, Kidd K, Goldman D. Apparent monomorphism of ALDH2 in seven American Indian populations. Alcohol 1995, 12: 163-167. PMID: 7772269, DOI: 10.1016/0741-8329(94)00086-7.Peer-Reviewed Original ResearchConceptsNew World populationsSouth American Indian populationsALDH2 geneMitochondrial aldehyde dehydrogenaseNorth American populationsALDH2 cDNAALDH2 functionRestriction endonucleasesAldehyde dehydrogenaseConformation polymorphism techniqueSouth American IndiansGenesAllele-specific amplificationAllelesStudied individualsPolymorphism techniquePolymorphismAmerican populationFragmentsAmerican Indian populationsCDNAALDH2EndonucleaseVariantsPopulation
1978
Research Designs for the Study of Gene-Environment Interactions in Psychiatric Disorders: Report of a Foundations Fund for Research in Psychiatry Panel
Kidd K, Matthysee S. Research Designs for the Study of Gene-Environment Interactions in Psychiatric Disorders: Report of a Foundations Fund for Research in Psychiatry Panel. JAMA Psychiatry 1978, 35: 925-932. PMID: 678045, DOI: 10.1001/archpsyc.1978.01770320019001.Peer-Reviewed Original ResearchConceptsGenetic variantsUnrelated individualsIndividual genetic variantsGenetic variationDifferent genetic variantsExtended pedigreesGenetic heterogeneityGene-environment interactionsGenetic hypothesisPhenotypeDiagnostic phenotypesFamilyGeneticsVariantsTraitsIndividual susceptibilitySpecific hypothesesSuch studiesHypothesisEnvironmental contributionsPedigreeGenotypesSusceptibility