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
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
2018
An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels
Montasser M, O’Hare E, Wang X, Howard A, McFarland R, Perry J, Ryan K, Rice K, Jaquish C, Shuldiner A, Miller M, Mitchell B, Zaghloul N, Chang Y, Abe N, Abecasis G, Albert C, Allred N, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Arking D, Arnett D, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Barnard J, Barnes K, Barr R, Barron-Casella E, Beaty T, Becker D, Becker L, Beer R, Begum F, Beitelshees A, Benjamin E, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Boerwinkle E, Borecki I, Bowler R, Brody J, Broeckel U, Broome J, Bunting K, Burchard E, Cardwell J, Carlson S, Carty C, Casaburi R, Casella J, Chaffin M, Chang C, Chasman D, Chavan S, Chen B, Chen W, Chen Y, Cho M, Choi S, Chuang L, Chung M, Cornell E, Correa A, Crandall C, Crapo J, Cupples L, Curran J, Curtis J, Custer B, Damcott C, Darbar D, Das S, David S, Davis C, Daya M, de Andrade M, DeBaun M, Deka R, DeMeo D, Devine S, Do R, Duan Q, Duggirala R, Durda P, Dutcher S, Eaton C, Ekunwe L, Ellinor P, Emery L, Farber C, Farnam L, Fingerlin T, Flickinger M, Fornage M, Franceschini N, Fu M, Fullerton M, Fulton L, Gabriel S, Gan W, Gao Y, Gass M, Gelb B, Geng X, Germer S, Gignoux C, Gladwin M, Glahn D, Gogarten S, Gong D, Goring H, Gu C, Guan Y, Guo X, Haessler J, Hall M, Harris D, Hawley N, He J, Heavner B, Heckbert S, Hernandez R, Herrington D, Hersh C, Hidalgo B, Hixson J, Hokanson J, Hong E, Hoth K, Hsiung C, Huston H, Hwu C, Irvin M, Jackson R, Jain D, Jaquish C, Jhun M, Johnsen J, Johnson A, Johnson C, Johnston R, Jones K, Kang H, Kaplan R, Kardia S, Kathiresan S, Kaufman L, Kelly S, Kenny E, Kessler M, Khan A, Kinney G, Konkle B, Kooperberg C, Kramer H, Krauter S, Lange C, Lange E, Lange L, Laurie C, Laurie C, LeBoff M, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li Y, Lin H, Lin K, Liu S, Liu Y, Loos R, Lunetta K, Luo J, Mahaney M, Make B, Manichaikul A, Manson J, Margolin L, Martin L, Mathai S, Mathias R, McArdle P, McDonald M, McFarland S, McGarvey S, Mei H, Meyers D, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Musani S, Mwasongwe S, Mychaleckyj J, Nadkarni G, Naik R, Natarajan P, Nekhai S, Nickerson D, North K, O’Connell J, O’Connor T, Heather O, Pankow J, Papanicolaou G, Parker M, Parsa A, Pattison J, Penchev S, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Phillips S, Pollin T, Post W, Becker J, Boorgula M, Preuss M, Prokopenko D, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Ramachandran V, Rao D, Rasmussen-Torvik L, Ratan A, Redline S, Reed R, Regan E, Reiner A, Rice K, Rich S, Roden D, Roselli C, Rotter J, Ruczinski I, Russell P, Ruuska S, Ryan K, Sakornsakolpat P, Salimi S, Salzberg S, Sandow K, Sankaran V, Scheller C, Schmidt E, Schwander K, Schwartz D, Sciurba F, Seidman C, Sheehan V, Shetty A, Shetty A, Sheu W, Shoemaker M, Silver B, Silverman E, Smith J, Smith J, Smith N, Smith T, Smoller S, Snively B, Sofer T, Sotoodehnia N, Stilp A, Streeten E, Sung Y, Sylvia J, Szpiro A, Sztalryd C, Taliun D, Tang H, Taub M, Taylor K, Taylor S, Telen M, Thornton T, Tinker L, Tirschwell D, Tiwari H, Tracy R, Tsai M, Vaidya D, VandeHaar P, Vrieze S, Walker T, Wallace R, Walts A, Wan E, Wang F, Watson K, Weeks D, Weir B, Weiss S, Weng L, Willer C, Williams K, Williams L, Wilson C, Wilson J, Wong Q, Xu H, Yanek L, Yang I, Yang R, Zaghloul N, Zhang Y, Zhao S, Zhao W, Zheng X, Zhi D, Zhou X, Zody M, Zoellner S. An APOO Pseudogene on Chromosome 5q Is Associated With Low-Density Lipoprotein Cholesterol Levels. Circulation 2018, 138: 1343-1355. PMID: 29593015, PMCID: PMC6162188, DOI: 10.1161/circulationaha.118.034016.Peer-Reviewed Original ResearchConceptsZebrafish modelRecombination mappingCausal genesGenetic basisCandidate genesChromosome 5Genetic analysisAssociation analysisLipid homeostasisAssociated regionNovel mechanismGenetic variantsAmish subjectsGenesChromosome 5qPseudogenesFounder haplotypeVascular plaque formationCholesterol metabolismVariantsElevated levelsAtherosclerotic lesionsHomeostasisHaplotypesExpression
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