2025
A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women
Erdogan-Yildirim Z, Carlson J, Krishnan M, Zhang J, Lambert-Messerlian G, Naseri T, Viali S, Hawley N, McGarvey S, Weeks D, Minster R. A Genome-Wide Association Study of Anti-Müllerian Hormone (AMH) Levels in Samoan Women. Genes 2025, 16: 793. PMID: 40725450, PMCID: PMC12294779, DOI: 10.3390/genes16070793.Peer-Reviewed Original ResearchConceptsGenome-wide association studiesTranscriptome-wide association analysisAssociation studiesGenome-wide suggestive lociExpression quantitative trait lociGene-based testsQuantitative trait lociBiologically plausible candidate genesCox mixed-effects modelsWomen of European ancestryAnti-Mullerian hormoneLead variantsSuggestive lociGenetic lociTrait lociAnti-Mullerian hormone levelsCandidate genesReproductive phenotypesSignificant genesAssociation analysisGenetic determinantsEuropean ancestryLociGenesRegulation of ovarian follicle development
2023
Multi-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
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
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