2023
A Polynesian-specific missense CETP variant alters the lipid profile
Moors J, Krishnan M, Sumpter N, Takei R, Bixley M, Cadzow M, Major T, Phipps-Green A, Topless R, Merriman M, Rutledge M, Morgan B, Carlson J, Zhang J, Russell E, Sun G, Cheng H, Weeks D, Naseri T, Reupena M, Viali S, Tuitele J, Hawley N, Deka R, McGarvey S, de Zoysa J, Murphy R, Dalbeth N, Stamp L, Taumoepeau M, King F, Wilcox P, Rapana N, McCormick S, Minster R, Merriman T, Leask M. A Polynesian-specific missense CETP variant alters the lipid profile. Human Genetics And Genomics Advances 2023, 4: 100204. PMID: 37250494, PMCID: PMC10209881, DOI: 10.1016/j.xhgg.2023.100204.Peer-Reviewed Original ResearchConceptsPopulation-specific genetic variantsGenomic studiesGenetic analysisFunction mutationsVariant altersGenetic determinantsGenetic variantsMinor alleleCETP deficiencyGenomicsHigher HDLLipid profileTraitsSequencingLow LDL-C levelsMutationsAllelesLDL-C levelsSerum lipid profileCopiesPolymorphismAssociatesLower LDLCardiovascular diseaseVariants
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
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