2021
Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease
Katz D, Tahir U, Bick A, Pampana A, Ngo D, Benson M, Yu Z, Robbins J, Chen Z, Cruz D, Deng S, Farrell L, Sinha S, Schmaier A, Shen D, Gao Y, Hall M, Correa A, Tracy R, Durda P, Taylor K, Liu Y, Johnson W, Guo X, Yao J, Ida Chen Y, Manichaikul A, Jain D, Bouchard C, Sarzynski M, Rich S, Rotter J, Wang T, Wilson J, Natarajan P, Gerszten R, 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, 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, Casas 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, El 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, Haas D, 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, Powers Becker J, Preethi 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, Wilson C, 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, Zody M, Zoellner S. Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease. Circulation 2021, 145: 357-370. PMID: 34814699, PMCID: PMC9158509, DOI: 10.1161/circulationaha.121.055117.Peer-Reviewed Original ResearchConceptsWhole genome sequence analysisGenome sequence analysisWhole genome sequencing association analysisPlasma proteomeSequence analysisNovel pleiotropic lociNovel genetic determinantsNew protein associationsNew biological mechanismsGenetic architectureNon-European populationsPleiotropic lociGenotyping arraysProtein associationProteomic profilingGene locusGenetic regionsProteomics platformFunctional importanceAssociation analysisProteomeAfrican ancestryGenetic determinantsNovel insightsProtein
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