2024
A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels
de Vries P, Reventun P, Brown M, Heath A, Huffman J, Le N, Bebo A, Brody J, Temprano-Sagrera G, Raffield L, Ozel A, Thibord F, Jain D, Lewis J, Rodriguez B, Pankratz N, Taylor K, Polasek O, Chen M, Yanek L, Carrasquilla G, Marioni R, Kleber M, Trégouët D, Yao J, Li-Gao R, Joshi P, Trompet S, Martinez-Perez A, Ghanbari M, Howard T, Reiner A, Arvanitis M, Ryan K, Bartz T, Rudan I, Faraday N, Linneberg A, Ekunwe L, Davies G, Delgado G, Suchon P, Guo X, Rosendaal F, Klaric L, Noordam R, van Rooij F, Curran J, Wheeler M, Osburn W, O'Connell J, Boerwinkle E, Beswick A, Psaty B, Kolcic I, Souto J, Becker L, Hansen T, Doyle M, Harris S, Moissl A, Deleuze J, Rich S, van Hylckama Vlieg A, Campbell H, Stott D, Soria J, de Maat M, Almasy L, Brody L, Auer P, Mitchell B, Ben-Shlomo Y, Fornage M, Hayward C, Mathias R, Kilpeläinen T, Lange C, Cox S, März W, Morange P, Rotter J, Mook-Kanamori D, Wilson C, van der Harst P, Jukema J, Ikram M, Blangero J, Kooperberg C, Desch K, Johnson A, Sabater-Lleal M, Lowenstein C, Smith A, Morrison A, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett D, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr R, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Blue N, Boerwinkle E, Bowden D, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carson A, Carty C, Casaburi R, Romero J, Casella J, Castaldi P, Chaffin M, Chang C, Chang Y, Chasman D, Chavan S, Chen B, Chen W, Chen Y, Cho M, Choi S, Chuang L, Chung M, Chung R, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples L, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, de las Fuentes L, de Vries P, DeBaun M, Deka R, DeMeo D, Devine S, Dinh H, Doddapaneni H, Duan Q, Dugan-Perez S, Duggirala R, Durda J, Dutcher S, Eaton C, Ekunwe L, Boueiz A, Ellinor P, Emery L, Erzurum S, Farber C, Farek J, Fingerlin T, Flickinger M, Fornage M, Franceschini N, Frazar C, Fu M, Fullerton S, Fulton L, Gabriel S, Gan W, Gao S, Gao Y, Gass M, Geiger H, Gelb B, Geraci M, Germer S, Gerszten R, Ghosh A, Gibbs R, Gignoux C, Gladwin M, Glahn D, Gogarten S, Gong D, Goring H, Graw S, Gray K, Grine D, Gross C, Gu C, Guan Y, Guo X, Gupta N, Haessler J, Hall M, Han Y, Hanly P, Harris D, Hawley N, He J, Heavner B, Heckbert S, Hernandez R, Herrington D, Hersh C, Hidalgo B, Hixson J, Hobbs B, Hokanson J, Hong E, Hoth K, Hsiung C, Hu J, Hung Y, Huston H, Hwu C, Irvin M, Jackson R, Jain D, Jaquish C, Johnsen J, Johnson C, Johnson A, Johnston R, Jones K, Kang H, Kaplan R, Kardia S, Kelly S, Kenny E, Kessler M, Khan A, Khan Z, Kim W, Kimoff J, Kinney G, Konkle B, Kooperberg C, Kramer H, Lange E, Lange L, Lange L, Laurie C, Laurie C, LeBoff M, Lee J, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin X, Liu S, Liu Y, Liu Y, Loos R, Lubitz S, Lunetta K, Luo J, Magalang U, Mahaney M, Make B, Manichaikul A, Manning A, Manson J, Martin L, Marton M, Mathai S, Mathias R, May S, McArdle P, McDonald M, McFarland S, McGarvey S, McGoldrick D, McHugh C, McNeil B, Mei H, Meigs J, Menon V, Mestroni L, Metcalf G, Meyers D, Mignot E, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Moll M, Momin Z, Montasser M, Montgomery C, Muzny D, Mychaleckyj J, Nadkarni G, Naik R, Naseri T, Natarajan P, Nekhai S, Nelson S, Neltner B, Nessner C, Nickerson D, Nkechinyere O, North K, O'Connell J, O'Connor T, Ochs-Balcom H, Okwuonu G, Pack A, Paik D, Palmer N, Pankow J, Papanicolaou G, Parker C, Peloso G, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Pleiness J, Pollin T, Post W, Becker J, Boorgula M, Preuss M, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Rajendran M, Ramachandran V, Rao D, Rasmussen-Torvik L, Ratan A, Redline S, Reed R, Reeves C, Regan E, Reiner A, Reupena M, Rice K, Rich S, Robillard R, Robine N, Roden D, Roselli C, Rotter J, Ruczinski I, Runnels A, Russell P, Ruuska S, Ryan K, Sabino E, Saleheen D, Salimi S, Salvi S, Salzberg S, Sandow K, Sankaran V, Santibanez J, Schwander K, Schwartz D, Sciurba F, Seidman C, Seidman J, Sériès F, Sheehan V, Sherman S, Shetty A, Shetty A, Sheu W, Shoemaker M, Silver B, Silverman E, Skomro R, Smith J, Smith J, Smith N, Smith T, Smith E, Smoller S, Snively B, Snyder M, Sofer T, Sotoodehnia N, Stilp A, Storm G, Streeten E, Su J, Sung Y, Sylvia J, Szpiro A, Taliun D, Tang H, Taub M, Taylor K, Taylor M, Taylor S, Telen M, Thornton T, Threlkeld M, Tinker L, Tirschwell D, Tishkoff S, Tiwari H, Tong C, Tracy R, Tsai M, Vaidya D, Van Den Berg D, VandeHaar P, Vrieze S, Walker T, Wallace R, Walts A, Wang F, Wang H, Wang J, Watson K, Watt J, Weeks D, Weinstock J, Weir B, Weiss S, Weng L, Wessel J, Willer C, Williams K, Williams L, Wilson J, Wilson J, Winterkorn L, Wong Q, Wu J, Xu H, Yanek L, Yang I, Yu K, Zekavat S, Zhang Y, Zhao S, Zhao W, Zhu X, Ziv E, Zody M, Zoellner S, Lindstrom S, Wang L, Smith N, Gordon W, van Hylckama Vlieg A, de Andrade M, Brody J, Pattee J, Haessler J, Brumpton B, Chasman D, Suchon P, Chen M, Turman C, Germain M, Wiggins K, MacDonald J, Braekkan S, Armasu S, Pankratz N, Jackson R, Nielsen J, Giulianini F, Puurunen M, Ibrahim M, Heckbert S, Bammler T, Frazer K, McCauley B, Taylor K, Pankow J, Reiner A, Gabrielsen M, Deleuze J, O'Donnell C, Kim J, McKnight B, Kraft P, Hansen J, Rosendaal F, Heit J, Psaty B, Tang W, Kooperberg C, Hveem K, Ridker P, Morange P, Johnson A, Kabrhel C, AlexandreTrégouët D, Smith N. A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels. Blood 2024, 143: 1845-1855. PMID: 38320121, PMCID: PMC11443575, DOI: 10.1182/blood.2023021452.Peer-Reviewed Original ResearchMendelian randomizationGene-based aggregation testingImputation of genotypesGene-based analysisMulti-phenotype analysisAssociations of factor VIIIGenetic association studiesHuman umbilical vein endothelial cellsCausal genesTrans-OmicsAssociation studiesB3GNT2Genetic associationVon Willebrand factorProtein von Willebrand factorLociIdentified associationsPDIA3Umbilical vein endothelial cellsIncreased riskMeta-analysisCarrier protein von Willebrand factorVein endothelial cellsPrecision medicineEndothelial cells
2023
Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma
Recto K, Kachroo P, Huan T, Van Den Berg D, Lee G, Bui H, Lee D, Gereige J, Yao C, Hwang S, Joehanes R, Weiss S, Consortium N, Abe N, Abecasis G, Aguet F, Albert C, Almasy L, Alonso A, Ament S, Anderson P, Anugu P, Applebaum-Bowden D, Ardlie K, Arking D, Arnett D, Ashley-Koch A, Aslibekyan S, Assimes T, Auer P, Avramopoulos D, Ayas N, Balasubramanian A, Barnard J, Barnes K, Barr R, Barron-Casella E, Barwick L, Beaty T, Beck G, Becker D, Becker L, Beer R, Beitelshees A, Benjamin E, Benos T, Bezerra M, Bielak L, Bis J, Blackwell T, Blangero J, Blue N, Boerwinkle E, Bowden D, Bowler R, Brody J, Broeckel U, Broome J, Brown D, Bunting K, Burchard E, Bustamante C, Buth E, Cade B, Cardwell J, Carey V, Carrier J, Carson A, Carty C, Casaburi R, Romero J, Casella J, Castaldi P, Chaffin M, Chang C, Chang Y, Chasman D, Chavan S, Chen B, Chen W, Chen Y, Cho M, Choi S, Chuang L, Chung M, Chung R, Clish C, Comhair S, Conomos M, Cornell E, Correa A, Crandall C, Crapo J, Cupples L, Curran J, Curtis J, Custer B, Damcott C, Darbar D, David S, Davis C, Daya M, de Andrade M, de las Fuentes L, de Vries P, DeBaun M, Deka R, DeMeo D, Devine S, Dinh H, Doddapaneni H, Duan Q, Dugan-Perez S, Duggirala R, Durda J, Dutcher S, Eaton C, Ekunwe L, Boueiz A, Ellinor P, Emery L, Erzurum S, Farber C, Farek J, Fingerlin T, Flickinger M, Fornage M, Franceschini N, Frazar C, Fu M, Fullerton S, Fulton L, Gabriel S, Gan W, Gao S, Gao Y, Gass M, Geiger H, Gelb B, Geraci M, Germer S, Gerszten R, Ghosh A, Gibbs R, Gignoux C, Gladwin M, Glahn D, Gogarten S, Gong D, Goring H, Graw S, Gray K, Grine D, Gross C, Gu C, Guan Y, Guo X, Gupta N, Haessler J, Hall M, Han Y, Hanly P, Harris D, Hawley N, He J, Heavner B, Heckbert S, Hernandez R, Herrington D, Hersh C, Hidalgo B, Hixson J, Hobbs B, Hokanson J, Hong E, Hoth K, Hsiung C, Hu J, Hung Y, Huston H, Hwu C, Irvin M, Jackson R, Jain D, Jaquish C, Johnsen J, Johnson A, Johnson C, Johnston R, Jones K, Kang H, Kaplan R, Kardia S, Kelly S, Kenny E, Kessler M, Khan A, Khan Z, Kim W, Kimoff J, Kinney G, Konkle B, Kooperberg C, Kramer H, Lange C, Lange E, Lange L, Laurie C, Laurie C, LeBoff M, Lee J, Lee S, Lee W, LeFaive J, Levine D, Levy D, Lewis J, Li X, Li Y, Lin H, Lin H, Lin X, Liu S, Liu Y, Liu Y, Loos R, Lubitz S, Lunetta K, Luo J, Magalang U, Mahaney M, Make B, Manichaikul A, Manning A, Manson J, Martin L, Marton M, Mathai S, Mathias R, May S, McArdle P, McDonald M, McFarland S, McGarvey S, McGoldrick D, McHugh C, McNeil B, Mei H, Meigs J, Menon V, Mestroni L, Metcalf G, Meyers D, Mignot E, Mikulla J, Min N, Minear M, Minster R, Mitchell B, Moll M, Momin Z, Montasser M, Montgomery C, Muzny D, Mychaleckyj J, Nadkarni G, Naik R, Naseri T, Natarajan P, Nekhai S, Nelson S, Neltner B, Nessner C, Nickerson D, Nkechinyere O, North K, O'Connell J, O'Connor T, Ochs-Balcom H, Okwuonu G, Pack A, Paik D, Palmer N, Pankow J, Papanicolaou G, Parker C, Peloso G, Peralta J, Perez M, Perry J, Peters U, Peyser P, Phillips L, Pleiness J, Pollin T, Post W, Becker J, Boorgula M, Preuss M, Psaty B, Qasba P, Qiao D, Qin Z, Rafaels N, Raffield L, Rajendran M, Ramachandran V, Rao D, Rasmussen-Torvik L, Ratan A, Redline S, Reed R, Reeves C, Regan E, Reiner A, Reupena M, Rice K, Rich S, Robillard R, Robine N, Roden D, Roselli C, Rotter J, Ruczinski I, Runnels A, Russell P, Ruuska S, Ryan K, Sabino E, Saleheen D, Salimi S, Salvi S, Salzberg S, Sandow K, Sankaran V, Santibanez J, Schwander K, Schwartz D, Sciurba F, Seidman C, Seidman J, Sériès F, Sheehan V, Sherman S, Shetty A, Shetty A, Sheu W, Shoemaker M, Silver B, Silverman E, Skomro R, Smith A, Smith J, Smith J, Smith N, Smith T, Smoller S, Snively B, Snyder M, Sofer T, Sotoodehnia N, Stilp A, Storm G, Streeten E, Su J, Sung Y, Sylvia J, Szpiro A, Taliun D, Tang H, Taub M, Taylor K, Taylor M, Taylor S, Telen M, Thornton T, Threlkeld M, Tinker L, Tirschwell D, Tishkoff S, Tiwari H, Tong C, Tracy R, Tsai M, Vaidya D, Van Den Berg D, VandeHaar P, Vrieze S, Walker T, Wallace R, Walts A, Wang F, Wang H, Wang J, Watson K, Watt J, Weeks D, Weinstock J, Weir B, Weiss S, Weng L, Wessel J, Willer C, Williams K, Williams L, Williams S, Wilson C, Wilson J, Winterkorn L, Wong Q, Wu B, Wu J, Xu H, Yanek L, Yang I, Yu K, Zekavat S, Zhang Y, Zhao S, Zhao W, Zhu X, Ziv E, Zody M, Zoellner S, O’Connor G, Levy D, DeMeo D. Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma. EBioMedicine 2023, 95: 104758. PMID: 37598461, PMCID: PMC10462855, DOI: 10.1016/j.ebiom.2023.104758.Peer-Reviewed Original ResearchConceptsMethylation quantitative trait lociAssociation studiesNovel epigenetic signatureIdentifies novel targetsQuantitative trait lociTranscription factor bindingEpigenome-wide association studiesGene ontology analysisWide association studyClosest genesTrait lociCausal regulatorsDrug target analysisTranscription patternsOntology analysisDNA methylationEpigenetic signaturesFactor bindingGene expressionMolecular mechanismsMendelian randomizationCosta Rica StudyPotential therapeutic targetNovel targetGenetic epidemiologyMulti-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 ResearchConceptsTWAS 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
A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles
Carlson J, Krishnan M, Rosenthal S, Russell E, Zhang J, Hawley N, Moors J, Cheng H, Dalbeth N, de Zoysa J, Watson H, Qasim M, Murphy R, Naseri T, Reupena M, Viali S, Stamp L, Tuitele J, Kershaw E, Deka R, McGarvey S, Merriman T, Weeks D, Minster R. A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles. Human Genetics And Genomics Advances 2022, 4: 100155. PMID: 36340932, PMCID: PMC9630829, DOI: 10.1016/j.xhgg.2022.100155.Peer-Reviewed Original ResearchConceptsStop-gain variantUnique population historyFine-mapping analysisEuropean ancestry populationsGenetic architecturePolynesian populationsPopulation historyGenetic analysisAssociation studiesSuggestive associationPolynesian ancestryCurrent understandingEvidence of associationAmerican SamoaBiological foundationsVariantsGeneticsPopulationNew ZealandBTNL9Ancestry
2020
Genome-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