2024
Associations between fasting glucose rate-of-change and the missense variant, rs373863828, in an adult Samoan cohort
Rivara A, Russell E, Carlson J, Pomer A, Naseri T, Reupena M, Manna S, Viali S, Minster R, Weeks D, DeLany J, Kershaw E, McGarvey S, Hawley N. Associations between fasting glucose rate-of-change and the missense variant, rs373863828, in an adult Samoan cohort. PLOS ONE 2024, 19: e0302643. PMID: 38829901, PMCID: PMC11146712, DOI: 10.1371/journal.pone.0302643.Peer-Reviewed Original ResearchConceptsType 2 diabetesAllele of rs373863828Body mass indexFasting glucoseAdult SamoansDevelopment of type 2 diabetesOdds of type 2 diabetesReduction of modifiable risk factorsRs373863828 genotypeAssociated with higher body mass indexType 2 diabetes developmentGlucose rate of changeMass indexHousehold asset scoreUrbanization of residenceHigher body mass indexRisk factorsModifiable risk factorsRate of changeBaseline variablesMultivariate linear regressionPhysical activityDiabetes preventionType 2 diabetes mellitusSmoking status
2023
Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations
Krishnan M, Phipps-Green A, Russell E, Major T, Cadzow M, Stamp L, Dalbeth N, Hindmarsh J, Qasim M, Watson H, Liu S, Carlson J, Minster R, Hawley N, Naseri T, Reupena M, Deka R, McGarvey S, Merriman T, Murphy R, Weeks D. Association of rs9939609 in FTO with BMI among Polynesian peoples living in Aotearoa New Zealand and other Pacific nations. Journal Of Human Genetics 2023, 68: 463-468. PMID: 36864286, PMCID: PMC10313811, DOI: 10.1038/s10038-023-01141-5.Peer-Reviewed Original ResearchMeSH KeywordsAlpha-Ketoglutarate-Dependent Dioxygenase FTOBayes TheoremBody Mass IndexGenetic Predisposition to DiseaseHumansMaori PeopleNew ZealandPacific Island PeoplePolymorphism, Single NucleotideConceptsBody mass indexMean body mass indexHigher body mass indexPrevious smaller studiesAssociation of rs9939609New Zealand PolynesiansMass indexFat massSmall studySignificant associationPolynesian ancestryFTO variantsRs9939609Effect size estimatesAssociationSimilar effectsMean effect size estimateMulti-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing
Chen F, Wang X, Jang S, Quach B, Weissenkampen J, Khunsriraksakul C, Yang L, Sauteraud R, Albert C, Allred N, Arnett D, Ashley-Koch A, Barnes K, Barr R, Becker D, Bielak L, Bis J, Blangero J, Boorgula M, Chasman D, Chavan S, Chen Y, Chuang L, Correa A, Curran J, David S, Fuentes L, Deka R, Duggirala R, Faul J, Garrett M, Gharib S, Guo X, Hall M, Hawley N, He J, Hobbs B, Hokanson J, Hsiung C, Hwang S, Hyde T, Irvin M, Jaffe A, Johnson E, Kaplan R, Kardia S, Kaufman J, Kelly T, Kleinman J, Kooperberg C, Lee I, Levy D, Lutz S, Manichaikul A, Martin L, Marx O, McGarvey S, Minster R, Moll M, Moussa K, Naseri T, North K, Oelsner E, Peralta J, Peyser P, Psaty B, Rafaels N, Raffield L, Reupena M, Rich S, Rotter J, Schwartz D, Shadyab A, Sheu W, Sims M, Smith J, Sun X, Taylor K, Telen M, Watson H, Weeks D, Weir D, Yanek L, Young K, Young K, Zhao W, Hancock D, Jiang B, Vrieze S, Liu D. Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing. Nature Genetics 2023, 55: 291-300. PMID: 36702996, PMCID: PMC9925385, DOI: 10.1038/s41588-022-01282-x.Peer-Reviewed Original ResearchMeSH KeywordsBiologyDrug RepositioningGenetic Predisposition to DiseaseGenome-Wide Association StudyHumansPolymorphism, Single NucleotideTobacco UseTranscriptomeConceptsTWAS methodsExpression quantitative trait loci (eQTL) dataQuantitative trait loci dataTranscriptome-wide associationWide association studyGenome-wide association study summary statisticsWhole genome sequencesSubsequent fine mappingEQTL datasetNew genesLoci dataFine mappingPhenotypic effectsTobacco use phenotypesDiverse ancestryAssociation studiesBiological relevanceEuropean ancestryGenesAncestryGWASSummary statisticsBiologyDrug repurposingDiversity
2022
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension
Kelly TN, Sun X, He KY, Brown MR, Taliun SAG, Hellwege JN, Irvin MR, Mi X, Brody JA, Franceschini N, Guo X, Hwang SJ, de Vries PS, Gao Y, Moscati A, Nadkarni GN, Yanek LR, Elfassy T, Smith JA, Chung RH, Beitelshees AL, Patki A, Aslibekyan S, Blobner BM, Peralta JM, Assimes TL, Palmas WR, Liu C, Bress AP, Huang Z, Becker LC, Hwa CM, O’Connell J, Carlson JC, Warren HR, Das S, Giri A, Martin LW, Johnson W, Fox ER, Bottinger EP, Razavi AC, Vaidya D, Chuang LM, Chang YC, Naseri T, Jain D, Kang HM, Hung AM, Srinivasasainagendra V, Snively BM, Gu D, Montasser ME, Reupena M, Heavner BD, LeFaive J, Hixson JE, Rice KM, Wang FF, Nielsen JB, Huang J, Khan AT, Zhou W, Nierenberg JL, Laurie CC, Armstrong ND, Shi M, Pan Y, Stilp AM, Emery L, Wong Q, Hawley NL, Minster RL, Curran JE, Munroe PB, Weeks DE, North KE, Tracy RP, Kenny EE, Shimbo D, Chakravarti A, Rich SS, Reiner AP, Blangero J, Redline S, Mitchell BD, Rao DC, Chen Y, Kardia SLR, Kaplan RC, Mathias RA, He J, Psaty BM, Fornage M, Loos RJF, Correa A, Boerwinkle E, Rotter JI, Kooperberg C, Edwards TL, Abecasis GR, Zhu X, Levy D, Arnett DK, Morrison AC. Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension. Hypertension 2022, 79: 1656-1667. PMID: 35652341, PMCID: PMC9593435, DOI: 10.1161/hypertensionaha.122.19324.Peer-Reviewed Original ResearchMeSH KeywordsBlood PressureGenome-Wide Association StudyGenomicsHumansHypertensionPolymorphism, Single NucleotidePrecision MedicineConceptsDiastolic blood pressureSystolic blood pressureBlood pressureSequencing dataNovel common variantsWhole-genome sequencing dataGenome-wide significanceAllele frequency spectrumGenome sequencing studiesWhole-genome sequencing analysisLower systolic blood pressureWhole-exome sequencing dataStage 1Future blood pressureNovel lociTrans-OmicsIntergenic variantsVariant findingsSequencing studiesMillion Veteran ProgramUK Biobank participantsSequencing analysisCommon variantsBlood pressure signalsStroke participants
2021
A murine model of the human CREBRFR457Q obesity-risk variant does not influence energy or glucose homeostasis in response to nutritional stress
Kanshana JS, Mattila PE, Ewing MC, Wood AN, Schoiswohl G, Meyer AC, Kowalski A, Rosenthal SL, Gingras S, Kaufman BA, Lu R, Weeks DE, McGarvey ST, Minster RL, Hawley NL, Kershaw EE. A murine model of the human CREBRFR457Q obesity-risk variant does not influence energy or glucose homeostasis in response to nutritional stress. PLOS ONE 2021, 16: e0251895. PMID: 34520472, PMCID: PMC8439463, DOI: 10.1371/journal.pone.0251895.Peer-Reviewed Original ResearchConceptsMurine modelGlucose homeostasisEnergy/glucose homeostasisOdds of diabetesOdds of obesityObesity risk variantsAlternative preclinical modelsPromotes obesityPreclinical modelsKnockin miceObesityDiabetesStrong heritable componentExtensive phenotypic analysisMissense variantsOrthologous variantDiseaseMiceOddsAdaptive transcriptional responseExtreme nutritional stressNutritional stressHomeostasisGenetic contributionRegulatory factors
2020
A missense variant in CREBRF, rs373863828, is associated with fat-free mass, not fat mass in Samoan infants
Arslanian KJ, Fidow UT, Atanoa T, Unasa-Apelu F, Naseri T, Wetzel AI, Pomer A, Duckham RL, McGarvey ST, Strayer JA, Kershaw EE, Weeks DE, Hawley NL. A missense variant in CREBRF, rs373863828, is associated with fat-free mass, not fat mass in Samoan infants. International Journal Of Obesity 2020, 45: 45-55. PMID: 32884101, PMCID: PMC8329753, DOI: 10.1038/s41366-020-00659-4.Peer-Reviewed Original ResearchConceptsBody mass indexDual-energy X-ray absorptiometrySamoan infantsBone massFat massLean massEarly infantsBody compositionInfant body mass indexMinor alleleDeterminants of adiposityOdds of diabetesBone mass accretionMissense variantsX-ray absorptiometryFat-free massCross-sectional analysisMore bone massCREBRF variantProspective studyHigher oddsEarly infancyInfantsAdult populationNatural historyGenome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels
Carlson JC, Weeks DE, Hawley NL, Sun G, Cheng H, Naseri T, Reupena M, Tuitele J, Deka R, McGarvey ST, Minster RL. Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels. Journal Of Human Genetics 2020, 66: 111-121. PMID: 32759990, PMCID: PMC7785639, DOI: 10.1038/s10038-020-0816-9.Peer-Reviewed Original ResearchMeSH KeywordsAdultApolipoprotein A-IApolipoproteins ECholesterol Ester Transfer ProteinsCholesterol, HDLCholesterol, LDLCohort StudiesFastingFemaleGenetic MarkersGenome-Wide Association StudyHumansLipid MetabolismLipidsMaleMiddle AgedPolymorphism, Single NucleotideQuantitative Trait LociSamoaTriglyceridesConceptsGenome-wide association studiesGenetic architectureAssociation studiesGenome-wide significant associationDifferent association signalsUnique population historyPopulation bottlenecksLipid lociPopulation historyAssociation signalsSuggestive associationRab21Current understandingMGAT1Association of variantsReplication cohortLipidsBiological foundationsVariantsLociLow-density lipoproteinInsightsPopulationLipid levelsHigh-density lipoprotein
2016
A thrifty variant in CREBRF strongly influences body mass index in Samoans
Minster RL, Hawley NL, Su CT, Sun G, Kershaw EE, Cheng H, Buhule OD, Lin J, Reupena MS, Viali S, Tuitele J, Naseri T, Urban Z, Deka R, Weeks DE, McGarvey ST. A thrifty variant in CREBRF strongly influences body mass index in Samoans. Nature Genetics 2016, 48: 1049-1054. PMID: 27455349, PMCID: PMC5069069, DOI: 10.1038/ng.3620.Peer-Reviewed Original Research