Analysis of protein-coding genetic variation in 60,706 humans.
Nature
Lek, Monkol M; Karczewski, Konrad J KJ; Minikel, Eric V EV; Samocha, Kaitlin E KE; Banks, Eric E; Fennell, Timothy T; O'Donnell-Luria, Anne H AH; Ware, James S JS; Hill, Andrew J AJ; Cummings, Beryl B BB; Tukiainen, Taru T; Birnbaum, Daniel P DP; Kosmicki, Jack A JA; Duncan, Laramie E LE; Estrada, Karol K; Zhao, Fengmei F; Zou, James J; Pierce-Hoffman, Emma E; Berghout, Joanne J; Cooper, David N DN; Deflaux, Nicole N; DePristo, Mark M; Do, Ron R; Flannick, Jason J; Fromer, Menachem M; Gauthier, Laura L; Goldstein, Jackie J; Gupta, Namrata N; Howrigan, Daniel D; Kiezun, Adam A; Kurki, Mitja I MI; Moonshine, Ami Levy AL; Natarajan, Pradeep P; Orozco, Lorena L; Peloso, Gina M GM; Poplin, Ryan R; Rivas, Manuel A MA; Ruano-Rubio, Valentin V; Rose, Samuel A SA; Ruderfer, Douglas M DM; Shakir, Khalid K; Stenson, Peter D PD; Stevens, Christine C; Thomas, Brett P BP; Tiao, Grace G; Tusie-Luna, Maria T MT; Weisburd, Ben B; Won, Hong-Hee HH; Yu, Dongmei D; Altshuler, David M DM; Ardissino, Diego D; Boehnke, Michael M; Danesh, John J; Donnelly, Stacey S; Elosua, Roberto R; Florez, Jose C JC; Gabriel, Stacey B SB; Getz, Gad G; Glatt, Stephen J SJ; Hultman, Christina M CM; Kathiresan, Sekar S; Laakso, Markku M; McCarroll, Steven S; McCarthy, Mark I MI; McGovern, Dermot D; McPherson, Ruth R; Neale, Benjamin M BM; Palotie, Aarno A; Purcell, Shaun M SM; Saleheen, Danish D; Scharf, Jeremiah M JM; Sklar, Pamela P; Sullivan, Patrick F PF; Tuomilehto, Jaakko J; Tsuang, Ming T MT; Watkins, Hugh C HC; Wilson, James G JG; Daly, Mark J MJ; MacArthur, Daniel G DG; ,
The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
Plos One
Villarreal-Molina, Teresa T; Posadas-Romero, Carlos C; Romero-Hidalgo, Sandra S; Antúnez-Argüelles, Erika E; Bautista-Grande, Araceli A; Vargas-Alarcón, Gilberto G; Kimura-Hayama, Eric E; Canizales-Quinteros, Samuel S; Juárez-Rojas, Juan Gabriel JG; Posadas-Sánchez, Rosalinda R; Cardoso-Saldaña, Guillermo G; Medina-Urrutia, Aída A; González-Salazar, María Del Carmen Mdel C; Martínez-Alvarado, Rocío R; Jorge-Galarza, Esteban E; Carnevale, Alessandra A
A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans.
Human Molecular Genetics
Acuña-Alonzo, Víctor V; Flores-Dorantes, Teresa T; Kruit, Janine K JK; Villarreal-Molina, Teresa T; Arellano-Campos, Olimpia O; Hünemeier, Tábita T; Moreno-Estrada, Andrés A; Ortiz-López, Ma Guadalupe MG; Villamil-Ramírez, Hugo H; León-Mimila, Paola P; Villalobos-Comparan, Marisela M; Jacobo-Albavera, Leonor L; Ramírez-Jiménez, Salvador S; Sikora, Martin M; Zhang, Lin-Hua LH; Pape, Terry D TD; Granados-Silvestre, Ma de Angeles Mde A; Montufar-Robles, Isela I; Tito-Alvarez, Ana M AM; Zurita-Salinas, Camilo C; Bustos-Arriaga, José J; Cedillo-Barrón, Leticia L; Gómez-Trejo, Celta C; Barquera-Lozano, Rodrigo R; Vieira-Filho, Joao P JP; Granados, Julio J; Romero-Hidalgo, Sandra S; Huertas-Vázquez, Adriana A; González-Martín, Antonio A; Gorostiza, Amaya A; Bonatto, Sandro L SL; Rodríguez-Cruz, Maricela M; Wang, Li L; Tusié-Luna, Teresa T; Aguilar-Salinas, Carlos A CA; Lisker, Ruben R; Moises, Regina S RS; Menjivar, Marta M; Salzano, Francisco M FM; Knowler, William C WC; Bortolini, M Cátira MC; Hayden, Michael R MR; Baier, Leslie J LJ; Canizales-Quinteros, Samuel S